System Clinical Exome Sequencing Enhanced Package …pathology.ucla.edu/workfiles/CES-gene-coverage.pdfACTA2 1166 100% ACTA2‐Related Thoracic Aortic Aneurysms and Aortic Dissections

UCLA Health SystemDepartment of Pathology and Laboratory Medicine

UCLA Molecular Diagnostics Laboratories

Clinical Exome Sequencing Enhanced PackageFeb 2012Page:1

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

MARC1 1093 80% .

MARCH1 1005 100% .

MARC2 1797 92% .

MARCH3 802 100% .

MARCH4 1249 99% .

MARCH5 861 96% .

MARCH6 2907 100% .

MARCH7 2161 100% .

MARCH8 900 100% .

MARCH9 1057 73% .

MARCH10 2467 100% .

MARCH11 1225 56% .

SEPT1 1148 100% .

SEPT2 1341 100% .

SEPT3 1175 100% .

SEPT4 1848 96% .

SEPT5 1250 94% .

SEPT6 1440 96% .

SEPT7 1417 96%SEPT7 1417 96% .

SEPT8 1659 98% .

SEPT9 2290 96% Hereditary Neuralgic Amyotrophy

SEPT10 1605 98% .

SEPT11 1334 98% .

SEPT12 1113 100% .

SEPT14 1335 100% .

SEP15 518 100% .

DEC1 229 100% .

A1BG 1626 82% .

A1CF 1956 100% .

A2LD1 466 42% .

A2M 4569 100% .

A2ML1 4505 100% .





A4GALT 1066 100% .

A4GNT 1031 100% .

AAAS 1705 100% Achalasia‐Addisonianism‐Alacrima Syndrome

AACS 2091 94% .

AADAC 1232 100% .

AADACL2 1226 100% .

AADACL3 1073 100% .

AADACL4 1240 100% .

AADAT 1342 97% .

AAGAB 988 100% .

AAK1 3095 100% .

AAMP 1422 100% .

AANAT 637 93% .

AARS 3059 100% Charcot‐Marie‐Tooth Neuropathy Type 2

AARS 3059 100% Charcot‐Marie‐Tooth Neuropathy Type 2N

AARS2 3050 100% .

AARSD1 1902 98% .

AASDH 3391 100% .

AASDHPPT 954 100%AASDHPPT 954 100% .

AASS 2873 100% Hyperlysinemia

AATF 1731 99% .

AATK 4181 78% .

ABAT 1563 100% GABA‐Transaminase Deficiency

ABCA1 6991 100% ABCA1‐Associated Familial High Density Lipoprotein Deficiency

ABCA1 6991 100% Familial High Density Lipoprotein Deficiency

ABCA1 6991 100% Tangier Disease

ABCA10 4780 100% .

ABCA12 8035 100% ABCA12‐Related Autosomal Recessive Congenital Ichthyosis

ABCA12 8035 100% Autosomal Recessive Congenital Ichthyosis

ABCA12 8035 100% Harlequin Ichthyosis

ABCA13 15482 99% .

ABCA2 7889 95% .





ABCA3 5261 99% ABCA3‐Related Pulmonary Surfactant Metabolism Dysfunction

ABCA3 5261 99% Pulmonary Surfactant Metabolism Dysfunction

ABCA4 7022 100% ABCA4‐Related Retinitis Pigmentosa

ABCA4 7022 100% ABCA4‐Related Stargardt Disease 1

ABCA4 7022 100% Age‐Related Macular Degeneration

ABCA4 7022 100% Age‐Related Macular Degeneration 2

ABCA4 7022 100% Cone‐Rod Dystrophy 3

ABCA4 7022 100% Retinitis Pigmentosa, Autosomal Recessive

ABCA4 7022 100% Stargardt Disease, Autosomal Recessive

ABCA5 5084 100% .

ABCA6 5104 100% .

ABCA7 6709 96% .

ABCA8 4894 100% .

ABCA9 5066 100% .

ABCB1 3951 100% .

ABCB10 2269 77% .

ABCB11 4074 100% ABCB11‐Related Intrahepatic Cholestasis

ABCB11 4074 100% Low Gamma‐GT Familial Intrahepatic Cholestasis

ABCB4 3969 100% Progressive Familial Intrahepatic Cholestasis 3ABCB4 3969 100% Progressive Familial Intrahepatic Cholestasis 3

ABCB5 3923 100% .

ABCB6 2605 100% .

ABCB7 2332 100% X‐Linked Sideroblastic Anemia and Ataxia

ABCB8 2221 100% .

ABCB9 2551 90% .

ABCC1 4720 98% .

ABCC10 4655 100% .

ABCC11 4265 100% .

ABCC12 4200 100% .

ABCC2 4781 100% Dubin‐Johnson Syndrome

ABCC3 4994 99% .

ABCC4 4151 99% .

ABCC5 4575 100% .





ABCC6 4646 92% Pseudoxanthoma Elasticum

ABCC8 4947 97% ABCC8‐Related Hyperinsulinism

ABCC8 4947 97% ABCC8‐Related Permanent Neonatal Diabetes Mellitus

ABCC8 4947 97% ABCC8‐Related Transient Neonatal Diabetes Mellitus 2

ABCC8 4947 97% Familial Hyperinsulinism

ABCC8 4947 97% Permanent Neonatal Diabetes Mellitus

ABCC9 4944 100% ABCC9‐Related Dilated Cardiomyopathy

ABCC9 4944 100% Dilated Cardiomyopathy

ABCD1 2436 92% Adrenoleukodystrophy, X‐Linked

ABCD2 2263 100% .

ABCD3 2103 100% .

ABCD4 1897 100% .

ABCE1 1868 100% .

ABCF1 2795 94% .

ABCF2 1969 100% .

ABCF3 2214 100% .

ABCG1 2265 95% .

ABCG2 2047 100% .

ABCG4 1997 100%ABCG4 1997 100% .

ABCG5 2008 91% Sitosterolemia

ABCG8 2074 97% Sitosterolemia

ABHD1 1278 100% .

ABHD10 941 100% .

ABHD11 1078 99% .

ABHD12 1311 85% Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract

ABHD12B 1141 91% .

ABHD13 1018 100% .

ABHD14A 836 91% .

ABHD14B 907 98% .

ABHD15 1415 88% .

ABHD16A 2173 94% .

ABHD16B 1414 66% .





ABHD2 1314 100% .

ABHD3 1266 100% .

ABHD4 1057 98% .

ABHD5 1097 100% Chanarin‐Dorfman Syndrome

ABHD6 1046 100% .

ABHD8 1336 100% .

ABI1 1630 97% .

ABI2 1470 100% .

ABI3 1133 89% .

ABI3BP 3424 100% .

ABL1 3577 99% .

ABL2 3827 99% .

ABLIM1 2586 100% .

ABLIM2 2076 99% .

ABLIM3 2144 100% .

ABO 7 0% .

ABP1 2329 100% .

ABR 2811 97% .

ABRA 1154 100%ABRA 1154 100% .

ABT1 831 100% .

ABTB1 1485 97% .

ABTB2 3146 90% .

ACAA1 1324 93% .

ACAA2 1240 92% .

ACACA 7433 100% .

ACACB 7670 100% .

ACAD10 3357 97% .

ACAD11 2440 100% .

ACAD8 1292 97% Isobutyryl‐CoA Dehydrogenase Deficiency

ACAD9 2330 100% Acyl‐CoA Dehydrogenase 9 Deficiency

ACADL 1337 96% Long‐Chain Acyl‐CoA Dehydrogenase Deficiency

ACADM 1326 100% Medium Chain Acyl‐Coenzyme A Dehydrogenase Deficiency





ACADS 1279 96% Short Chain Acyl‐CoA Dehydrogenase Deficiency

ACADSB 1343 97% Acyl‐CoA Dehydrogenase, Short/Branched Chain Deficiency

ACADVL 2186 98% Very Long Chain Acyl‐Coenzyme A Dehydrogenase Deficiency

ACAN 7661 87% .

ACAP1 2311 95% .

ACAP2 2429 98% .

ACAP3 2601 82% .

ACAT1 1332 94% Ketothiolase Deficiency

ACAT2 1230 99% .

ACBD3 1619 86% .

ACBD4 1094 97% .

ACBD5 1670 100% .

ACBD6 881 100% .

ACBD7 283 100% .

ACCN1 2291 93% .

ACCN2 1769 100% .

ACCN3 1755 97% .

ACCN4 2041 94% .

ACCN5 1558 100%ACCN5 1558 100% .

ACCS 1562 100% .

ACCSL 1763 100% .

ACD 1842 100% .

ACE 4224 95% Cardiovascular Disease Risk Factor (Angiotensin Converting Enzyme (ACE))

ACE2 2490 100% .

ACER1 819 100% .

ACER2 852 95% .

ACER3 848 88% .

ACHE 2171 98% .

ACIN1 4249 100% .

ACLY 3445 100% .

ACMSD 1051 100% .

ACN9 386 100% .





ACO1 2772 100% .

ACO2 2496 100% .

ACOT1 1278 73% .

ACOT11 2052 96% .

ACOT12 1736 94% .

ACOT13 436 100% .

ACOT2 1464 96% .

ACOT4 1278 91% .

ACOT6 632 100% .

ACOT7 1437 94% .

ACOT8 984 100% .

ACOT9 1434 99% .

ACOX1 2204 100% Pseudoneonatal Adrenoleukodystrophy

ACOX2 2129 100% .

ACOX3 2171 94% .

ACOXL 1811 99% .

ACP1 683 100% .

ACP2 1349 100% .

ACP5 994 100%ACP5 994 100% .

ACP6 1327 98% .

ACPL2 1464 100% .

ACPP 1324 100% .

ACPT 1325 86% .

ACR 1286 90% .

ACRBP 1672 98% .

ACRC 2124 97% .

ACRV1 814 100% .

ACSBG1 2231 100% .

ACSBG2 2053 100% .

ACSF2 1912 96% .

ACSF3 1820 99% .

ACSL1 2216 100% .





ACSL3 2219 100% .

ACSL4 2192 100% X‐Linked Mental Retardation 63

ACSL5 2304 100% .

ACSL6 2346 100% .

ACSM1 1800 100% .

ACSM2A 1787 100% .

ACSM2B 1786 100% .

ACSM3 1978 100% .

ACSM4 1795 100% .

ACSM5 1792 100% .

ACSS1 2128 96% .

ACSS2 2227 93% .

ACSS3 2125 99% .

ACTA1 1158 100% ACTA1‐Related Congenital Fiber‐Type Disproportion

ACTA1 1158 100% ACTA1‐Related Nemaline Myopathy

ACTA1 1158 100% Childhood Restrictive Cardiomyopathy

ACTA1 1158 100% Congenital Fiber‐Type Disproportion

ACTA1 1158 100% Nemaline Myopathy

ACTA2 1166 100% ACTA2 Related Thoracic Aortic Aneurysms and Aortic DissectionsACTA2 1166 100% ACTA2‐Related Thoracic Aortic Aneurysms and Aortic Dissections

ACTA2 1166 100% Thoracic Aortic Aneurysms and Aortic Dissections

ACTB 1154 100% .

ACTBL2 1135 100% .

ACTC1 1158 100% ACTC1‐Related Dilated Cardiomyopathy

ACTC1 1158 100% ACTC1‐Related Familial Hypertrophic Cardiomyopathy

ACTC1 1158 100% Atrial Septal Defect 5

ACTC1 1158 100% Dilated Cardiomyopathy

ACTC1 1158 100% Familial Hypertrophic Cardiomyopathy

ACTG1 1148 100% DFNA20/26 Nonsyndromic Hearing Loss and Deafness

ACTG1 1148 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

ACTG2 1264 100% .

ACTL10 742 92% .

ACTL6A 1355 100% .





ACTL6B 1337 96% .

ACTL7A 1312 100% .

ACTL7B 1252 100% .

ACTL8 1109 100% .

ACTL9 1255 100% .

ACTN1 2962 100% .

ACTN2 2769 100% ACTN2‐Related Dilated Cardiomyopathy

ACTN2 2769 100% ACTN2‐Related Familial Hypertrophic Cardiomyopathy

ACTN2 2769 100% Dilated Cardiomyopathy

ACTN2 2769 100% Familial Hypertrophic Cardiomyopathy

ACTN3 2790 99% .

ACTN4 2820 96% Focal Segmental Glomerulosclerosis

ACTN4 2820 96% Focal Segmental Glomerulosclerosis 1

ACTR10 1306 100% .

ACTR1A 1175 100% .

ACTR1B 1179 97% .

ACTR2 1240 99% .

ACTR3 1305 97% .

ACTR3B 1305 96%ACTR3B 1305 96% .

ACTR3C 708 100% .

ACTR5 1860 88% .

ACTR6 1408 100% .

ACTR8 1946 100% .

ACTRT1 1135 100% .

ACTRT2 1138 100% .

ACVR1 1566 100% Fibrodysplasia Ossificans Progressiva

ACVR1B 1797 99% .

ACVR1C 1518 100% .

ACVR2A 1586 100% .

ACVR2B 1583 96% Heterotaxy Syndrome

ACVRL1 1590 100% ACVRL1‐Related Hereditary Hemorrhagic Telangiectasia

ACVRL1 1590 100% Hereditary Hemorrhagic Telangiectasia





ACY1 1424 100% .

ACY3 984 96% .

ACYP1 391 100% .

ACYP2 400 100% .

ADA 1140 97% Adenosine Deaminase Deficiency

ADAD1 1775 100% .

ADAD2 2042 92% .

ADAL 1140 73% .

ADAM10 2313 98% .

ADAM11 2428 95% .

ADAM12 2940 99% .

ADAM15 2717 98% .

ADAM17 2551 98% .

ADAM18 2300 100% .

ADAM19 3018 93% .

ADAM2 2288 100% .

ADAM20 2335 100% .

ADAM21 2173 100% .

ADAM22 3309 100%ADAM22 3309 100% .

ADAM23 2694 92% .

ADAM28 2480 100% .

ADAM29 2467 100% .

ADAM30 2377 100% .

ADAM32 2569 94% .

ADAM33 2749 80% .

ADAM7 2407 100% .

ADAM8 26 0% .

ADAM9 2606 100% Cone‐Rod Dystrophy 9

ADAMDEC1 1469 100% .

ADAMTS1 2940 98% .

ADAMTS10 3615 86% ADAMTS10‐Related Weill‐Marchesani Syndrome

ADAMTS10 3615 86% Weill‐Marchesani Syndrome





ADAMTS12 4946 100% .

ADAMTS13 4400 95% Familial Thrombotic Thrombocytopenia Purpura

ADAMTS14 3769 95% .

ADAMTS15 2885 100% .

ADAMTS16 3779 96% .

ADAMTS17 3376 81% .

ADAMTS18 3762 96% .

ADAMTS19 3731 89% .

ADAMTS2 3800 88% .

ADAMTS20 5922 100% .

ADAMTS3 3706 100% .

ADAMTS4 2613 99% .

ADAMTS5 2825 98% .

ADAMTS6 3607 100% .

ADAMTS7 5388 94% .

ADAMTS8 2938 75% .

ADAMTS9 5968 98% .

ADAMTSL1 5714 100% .

ADAMTSL2 3078 33% Geleophysic DysplasiaADAMTSL2 3078 33% Geleophysic Dysplasia

ADAMTSL3 5192 100% .

ADAMTSL4 3368 100% ADAMTSL4‐Related Eye Disorders

ADAMTSL5 1460 85% .

ADAP1 1169 79% .

ADAP2 1208 92% .

ADAR 3741 100% .

ADARB1 2326 95% .

ADARB2 2470 91% .

ADAT1 1545 100% .

ADAT2 600 100% .

ADAT3 1060 58% .

ADC 1515 100% .

ADCK1 1612 100% .





ADCK2 1913 99% .

ADCK3 2000 98% CABC1‐Related Coenzyme Q10 Deficiency

ADCK3 2000 98% Coenzyme Q10 Deficiency

ADCK4 1691 100% .

ADCK5 1803 83% .

ADCY1 3440 95% .

ADCY10 4977 100% .

ADCY2 3376 100% .

ADCY3 3522 99% .

ADCY4 3358 97% .

ADCY5 3958 86% .

ADCY6 3888 99% .

ADCY7 3343 93% .

ADCY8 3828 95% .

ADCY9 4102 98% .

ADCYAP1 547 96% .

ADCYAP1R1 1555 100% .

ADD1 2408 100% .

ADD2 2574 100%ADD2 2574 100% .

ADD3 2177 100% .

ADH1A 1164 100% .

ADH1B 1164 100% .

ADH1C 1164 100% .

ADH4 1179 100% .

ADH5 1161 100% .

ADH6 1168 100% .

ADH7 1279 96% .

ADHFE1 1460 96% .

ADI1 785 83% .

ADIG 247 100% .

ADIPOQ 743 100% .

ADIPOR1 1156 100% .





ADIPOR2 1189 100% .

ADK 1151 94% .

ADM 570 100% .

ADM2 957 81% .

ADNP 3321 100% .

ADNP2 3408 100% .

ADO 817 94% .

ADORA1 989 100% .

ADORA2A 1305 100% .

ADORA2B 1007 99% .

ADORA3 1790 100% .

ADPGK 1581 87% .

ADPRH 1086 100% .

ADPRHL1 1093 99% .

ADPRHL2 1116 84% .

ADRA1A 1986 88% .

ADRA1B 1571 80% .

ADRA1D 1727 79% .

ADRA2A 1402 83%ADRA2A 1402 83% .

ADRA2B 1348 100% .

ADRA2C 1393 77% .

ADRB1 1438 84% .

ADRB2 1246 100% Asthma, Susceptibility to

ADRB2 1246 100% Obesity

ADRB3 1235 54% .

ADRBK1 2219 97% .

ADRBK2 2151 99% .

ADRM1 1284 100% .

ADSL 1507 100% Adenylosuccinase Deficiency

ADSS 1423 99% .

ADSSL1 1751 83% .

AEBP1 3793 99% .





AEBP2 1598 88% .

AEN 990 100% .

AES 854 66% .

AFAP1 2513 99% .

AFAP1L1 2383 98% .

AFAP1L2 2533 95% .

AFF1 3758 99% .

AFF2 4025 100% FRAXE Syndrome

AFF3 3912 97% .

AFF4 3638 100% .

AFG3L2 2462 95% Spinocerebellar Ataxia Type28

AFM 1856 100% .

AFMID 1045 100% .

AFP 1886 100% .

AFTPH 2850 100% .

AGA 1077 100% Aspartylglycosaminuria

AGAP1 2818 100% .

AGAP11 4 0% .

AGAP2 3819 88%AGAP2 3819 88% .

AGAP3 3008 96% .

AGAP4 2020 64% .

AGAP5 2095 100% .

AGAP6 2093 100% .

AGAP7 2022 90% .

AGAP8 1948 53% .

AGAP9 4018 9% .

AGBL1 3257 100% .

AGBL2 2928 96% .

AGBL3 2828 67% .

AGBL4 1786 99% .

AGBL5 2904 100% .

AGER 1677 93% .





AGFG1 1817 100% .

AGFG2 1494 91% .

AGGF1 2216 100% .

AGK 1329 100% .

AGL 4803 100% Glycogen Storage Disease Type III

AGMAT 1087 89% .

AGMO 1390 100% .

AGPAT1 912 96% .

AGPAT2 861 99% Berardinelli‐Seip Congenital Lipodystrophy

AGPAT2 861 99% Berardinelli‐Seip Congenital Lipodystrophy Type 1

AGPAT3 1163 100% .

AGPAT4 1301 100% .

AGPAT5 1127 100% .

AGPAT6 1419 95% .

AGPAT9 1353 100% .

AGPHD1 1144 99% .

AGPS 2057 88% Rhizomelic Chondrodysplasia Punctata Type 3

AGR2 651 100% .

AGR3 570 100%AGR3 570 100% .

AGRN 6282 83% AGRN‐Related Congenital Myasthenic Syndrome

AGRP 411 100% .

AGT 1474 100% Cardiovascular Disease Risk Factor (Angiotensinogen)

AGTPBP1 3781 100% .

AGTR1 1084 100% Cardiovascular Disease Risk Factor (Angiotensin II Receptor, Type 1)

AGTR2 1096 100% X‐Linked Mental Retardation 88

AGTRAP 695 99% .

AGXT 1223 88% Hyperoxaluria, Primary, Type 1

AGXT2 1601 94% .

AGXT2L1 1557 100% .

AGXT2L2 1427 96% .

AHCTF1 6972 100% .

AHCY 1339 98% .





AHCYL1 1661 100% .

AHCYL2 2026 89% .

AHDC1 4816 97% .

AHI1 3771 100% AHI1‐Related Joubert Syndrome

AHI1 3771 100% Joubert Syndrome

AHNAK 17801 100% .

AHNAK2 17416 99% .

AHR 2591 100% .

AHRR 2251 98% .

AHSA1 1053 88% .

AHSA2 444 100% .

AHSG 1135 100% .

AHSP 317 100% .

AICDA 617 100% Immunodeficiency with Hyper‐IgM, Type 2

AIDA 961 96% .

AIF1 508 92% .

AIF1L 658 70% .

AIFM1 2053 97% .

AIFM2 1163 100%AIFM2 1163 100% .

AIFM3 1916 93% .

AIG1 741 100% .

AIM1 5252 99% .

AIM1L 2685 91% .

AIM2 1052 100% .

AIMP1 1039 100% .

AIMP2 979 100% .

AIP 1017 100% Growth Hormone‐Secreting Pituitary Adenoma

AIPL1 1179 100% AIPL1‐Related Leber Congenital Amaurosis

AIPL1 1179 100% AIPL1‐Related Retinitis Pigmentosa

AIPL1 1179 100% Leber Congenital Amaurosis

AIPL1 1179 100% Retinitis Pigmentosa, Autosomal Dominant

AIRE 1982 89% Autoimmune Polyendocrinopathy Syndrome Type 1





AJAP1 1256 100% .

AJUBA 1649 85% .

AK1 609 100% .

AK2 753 94% .

AK3 704 98% .

AK4 692 99% .

AK5 1745 98% .

AK7 2244 100% .

AK8 1492 91% .

AKAP1 2760 100% .

AKAP10 2049 96% .

AKAP11 5750 100% .

AKAP12 5390 97% .

AKAP13 8718 100% .

AKAP14 623 100% .

AKAP17A 2297 95% .

AKAP2 2906 95% .

AKAP3 2574 100% .

AKAP4 2589 100%AKAP4 2589 100% .

AKAP5 1288 100% .

AKAP6 7089 100% .

AKAP7 1184 100% .

AKAP8 2135 100% .

AKAP8L 1997 91% .

AKAP9 12229 100% Long QT Syndrome 11

AKD1 6203 91% .

AKIP1 752 100% .

AKIRIN1 806 72% .

AKIRIN2 632 69% .

AKNA 4832 93% .

AKNAD1 2571 100% .

AKR1A1 1010 100% .





AKR1B1 1097 100% .

AKR1B10 991 100% .

AKR1B15 1213 87% .

AKR1C1 1008 91% .

AKR1C2 1063 91% .

AKR1C3 1009 100% .

AKR1C4 1008 100% .

AKR1D1 1018 100% .

AKR1E2 1003 96% .

AKR7A2 1108 89% .

AKR7A3 1024 96% .

AKT1 1495 100% .

AKT1S1 794 71% .

AKT2 1500 100% .

AKT3 1540 100% .

AKTIP 1035 100% .

ALAD 1064 100% Acute Hepatic Porphyria

ALAS1 2071 100% .

ALAS2 1880 99% Congenital Sideroblastic AnemiaALAS2 1880 99% Congenital Sideroblastic Anemia

ALAS2 1880 99% Erythropoietic Protoporphyria, X‐Linked Dominant

ALAS2 1880 99% X‐Linked Sideroblastic Anemia

ALB 1924 100% Dysalbuminemic Hyperthyroxinemia

ALCAM 1817 100% .

ALDH16A1 2556 90% .

ALDH18A1 2456 100% .

ALDH1A1 1600 100% .

ALDH1A2 1610 100% .

ALDH1A3 1624 92% .

ALDH1B1 1558 100% .

ALDH1L1 2820 95% .

ALDH1L2 2864 98% .

ALDH2 1606 93% .





ALDH3A1 2004 100% .

ALDH3A2 1586 98% Sjogren‐Larsson Syndrome

ALDH3B1 9 0% .

ALDH3B2 1190 100% .

ALDH4A1 1765 91% Hyperprolinemia, Type II

ALDH5A1 1691 79% Succinic Semialdehyde Dehydrogenase Deficiency

ALDH6A1 1656 100% .

ALDH7A1 1816 98% Pyridoxine‐Dependent Seizures

ALDH8A1 1493 100% .

ALDH9A1 1601 100% .

ALDOA 1293 100% Aldolase A Deficiency

ALDOB 1149 100% Hereditary Fructose Intolerance

ALDOC 1127 100% .

ALG1 1447 97% ALG1‐CDG (CDG‐Ik)

ALG1 1447 97% Congenital Disorders of Glycosylation

ALG10 1434 100% .

ALG10B 1434 100% .

ALG11 1495 100% ALG11‐CDG (CDG‐Ip)

ALG11 1495 100% Congenital Disorders of GlycosylationALG11 1495 100% Congenital Disorders of Glycosylation

ALG12 2087 100% ALG12‐CDG (CDG‐Ig)


ALG13 3647 100% .

ALG14 667 100% .

ALG1L 585 100% .

ALG1L2 680 96% .

ALG2 1259 95% ALG2‐CDG (CDG‐Ii)


ALG3 1411 100% ALG3‐CDG (CDG‐Id)


ALG5 1015 100% .

ALG6 1590 100% ALG6‐CDG (CDG‐Ic)






ALG8 1692 94% ALG8‐CDG (CDG‐Ih)


ALG9 1925 93% ALG9‐CDG (CDG‐IL)


ALK 5024 99% ALK‐Related Neuroblastoma Susceptibility

ALK 5024 99% Neuroblastoma, Susceptibility

ALKBH1 1194 100% .

ALKBH2 798 100% .

ALKBH3 897 100% .

ALKBH4 921 100% .

ALKBH5 1201 92% .

ALKBH6 829 72% .

ALKBH7 682 78% .

ALKBH8 2045 100% .

ALLC 1274 100% .

ALMS1 12596 99% Alstrom Syndrome

ALOX12 2090 93% .

ALOX12B 2557 92% ALOX12B‐Related Autosomal Recessive Congenital Ichthyosis

ALOX12B 2557 92% Autosomal Recessive Congenital IchthyosisALOX12B 2557 92% Autosomal Recessive Congenital Ichthyosis

ALOX15 2045 93% .

ALOX15B 2163 96% .

ALOX5 2081 90% .

ALOX5AP 507 100% .

ALOXE3 2665 98% ALOXE3‐Related Autosomal Recessive Congenital Ichthyosis

ALOXE3 2665 98% Autosomal Recessive Congenital Ichthyosis

ALPI 1709 96% .

ALPK1 3793 100% .

ALPK2 6561 100% .

ALPK3 5780 92% .

ALPL 1619 100% Hypophosphatasia

ALPP 1652 96% .

ALPPL2 1643 84% .





ALS2 5184 99% ALS2‐Related Disorders

ALS2 5184 99% Amyotrophic Lateral Sclerosis

ALS2CL 3307 99% .

ALS2CR11 5674 100% .

ALS2CR12 1394 100% .

ALS2CR8 2348 100% .

ALX1 997 100% .

ALX3 1048 82% Frontorhiny

ALX4 1252 93% Enlarged Parietal Foramina/Cranium Bifidum

ALX4 1252 93% Parietal Foramina 2

ALYREF 819 68% .

AMACR 1227 99% Alpha‐Methylacyl‐CoA Racemase Deficiency

AMBN 1396 100% .

AMBP 1099 100% .

AMBRA1 3965 100% .

AMD1 1041 100% .

AMDHD1 1317 89% .

AMDHD2 2251 95% .

AMELX 642 100% Amelogenesis Imperfecta Hypoplastic/Hypomaturation X Linked 1AMELX 642 100% Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X‐Linked 1

AMELY 599 100% .

AMFR 2756 91% .

AMH 1703 59% .

AMHR2 1766 100% .

AMICA1 1268 100% .

AMIGO1 1486 100% .

AMIGO2 1573 100% .

AMIGO3 1519 100% .

AMMECR1 1026 96% .

AMMECR1L 957 100% .

AMN 1410 55% Megaloblastic Anemia

AMN1 805 95% .

AMOT 3316 97% .





AMOTL1 2938 100% .

AMOTL2 2440 100% .

AMPD1 2407 100% Adenosine Monophosphate Deaminase 1

AMPD2 2786 100% .

AMPD3 2411 99% .

AMPH 2172 98% .

AMT 1276 100% AMT‐Related Glycine Encephalopathy

AMT 1276 100% Glycine Encephalopathy

AMTN 662 100% .

AMY1A 4728 12% .

AMY1B 4728 12% .

AMY1C 4728 12% .

AMY2A 1576 71% .

AMY2B 1576 100% .

AMZ1 1521 95% .

AMZ2 1107 100% .

ANAPC1 6023 87% .

ANAPC10 574 100% .

ANAPC11 603 100%ANAPC11 603 100% .

ANAPC13 233 100% .

ANAPC16 345 100% .

ANAPC2 2521 100% .

ANAPC4 2542 100% .

ANAPC5 2370 100% .

ANAPC7 1848 100% .

ANG 448 100% Amyotrophic Lateral Sclerosis

ANG 448 100% ANG‐Related Amyotrophic Lateral Sclerosis

ANGEL1 2053 97% .

ANGEL2 1815 100% .

ANGPT1 1533 100% .

ANGPT2 1527 100% .

ANGPT4 1548 98% .





ANGPTL1 1492 100% .

ANGPTL2 1498 100% .

ANGPTL3 1411 100% .

ANGPTL4 1249 88% .

ANGPTL5 1199 100% .

ANGPTL6 1433 71% .

ANGPTL7 1061 100% .

ANK1 6529 98% Spherocytosis, Type 1

ANK2 12295 99% Long QT Syndrome 4

ANK3 14006 98% .

ANKAR 4426 100% .

ANKDD1A 1680 91% .

ANKFN1 2360 100% .

ANKFY1 3705 97% .

ANKH 1812 91% Chondrocalcinosis 2

ANKH 1812 91% Craniometaphyseal Dysplasia

ANKH 1812 91% Craniometaphyseal Dysplasia, Autosomal Dominant

ANKHD1 7979 99% .

ANKHD1 EIF4EBP3 8131 99%ANKHD1‐EIF4EBP3 8131 99% .

ANKIB1 3346 100% .

ANKK1 2330 98% .

ANKLE1 2209 80% .

ANKLE2 2869 90% .

ANKMY1 3182 100% .

ANKMY2 1366 100% .

ANKRA2 974 100% .

ANKRD1 996 100% ANKRD1‐Related Dilated Cardiomyopathy

ANKRD1 996 100% Dilated Cardiomyopathy

ANKRD10 1287 90% .

ANKRD11 8078 96% .

ANKRD12 6237 100% .

ANKRD13A 1833 95% .





ANKRD13B 1941 84% .

ANKRD13C 1678 99% .

ANKRD13D 1878 82% .

ANKRD16 1114 94% .

ANKRD17 7952 98% .

ANKRD18A 3082 100% .

ANKRD18B 3100 100% .

ANKRD2 1119 91% .

ANKRD20A1 2532 64% .

ANKRD20A2 5064 18% .

ANKRD20A3 7596 33% .

ANKRD20A4 2532 70% .

ANKRD22 600 100% .

ANKRD23 954 93% .

ANKRD24 3588 77% .

ANKRD26 5269 100% .

ANKRD27 3266 100% .

ANKRD28 3274 100% .

ANKRD29 946 97%ANKRD29 946 97% .

ANKRD30A 4166 93% .

ANKRD30B 4323 92% .

ANKRD31 5722 43% .

ANKRD32 3257 100% .

ANKRD33 1444 100% .

ANKRD33B 1501 66% .

ANKRD34A 1495 100% .

ANKRD34B 1549 100% .

ANKRD34C 1594 0% .

ANKRD35 3058 100% .

ANKRD36 5569 83% .

ANKRD36B 4298 67% .

ANKRD37 497 100% .





ANKRD39 568 99% .

ANKRD40 1127 100% .

ANKRD42 2175 72% .

ANKRD44 3249 99% .

ANKRD45 837 100% .

ANKRD46 699 100% .

ANKRD49 728 100% .

ANKRD5 2367 100% .

ANKRD50 4302 100% .

ANKRD52 3528 100% .

ANKRD53 1748 96% .

ANKRD54 1000 92% .

ANKRD55 1901 100% .

ANKRD6 2244 100% .

ANKRD63 1147 0% .

ANKRD65 6 0% .

ANKRD7 820 100% .

ANKRD9 958 31% .

ANKS1A 3501 98%ANKS1A 3501 98% .

ANKS1B 4059 100% .

ANKS3 2317 92% .

ANKS4B 1262 100% .

ANKS6 2679 86% .

ANKUB1 1663 54% .

ANKZF1 2310 100% .

ANLN 3583 100% .

ANO1 3218 100% .

ANO10 2122 95% .

ANO2 3101 100% .

ANO3 3054 100% .

ANO4 2863 100% .

ANO5 2830 100% Limb‐Girdle Muscular Dystrophies, Autosomal Recessive





ANO5 2830 100% Limb‐Girdle Muscular Dystrophy Type 2L

ANO6 3106 91% .

ANO7 3126 94% .

ANO8 3771 77% .

ANO9 2441 93% .

ANP32A 778 100% .

ANP32B 784 98% .

ANP32C 709 100% .

ANP32D 400 100% .

ANP32E 835 100% .

ANPEP 2984 100% .

ANTXR1 1844 97% .

ANTXR2 1577 100% Hyalinosis, Inherited Systemic

ANXA1 1103 100% .

ANXA10 1023 100% .

ANXA11 1574 100% .

ANXA13 1122 100% .

ANXA2 1126 97% .

ANXA3 1021 100%ANXA3 1021 100% .

ANXA4 1014 100% .

ANXA5 1029 100% .

ANXA6 2122 100% .

ANXA7 1519 100% .

ANXA8 2688 7% .

ANXA8L1 2688 7% .

ANXA8L2 1305 33% .

ANXA9 1086 100% .

AOAH 2080 100% .

AOC2 2287 100% .

AOC3 2308 100% .

AOX1 4157 99% .

AP1AR 960 92% .





AP1B1 3277 99% .

AP1G1 2561 100% .

AP1G2 2442 100% .

AP1M1 1360 97% .

AP1M2 1326 100% .

AP1S1 497 99% .

AP1S2 490 100% X‐linked Mental Retardation 59

AP1S3 523 99% .

AP2A1 3032 97% .

AP2A2 2943 98% .

AP2B1 2940 100% .

AP2M1 1476 100% .

AP2S1 449 100% .

AP3B1 3393 100% Hermansky‐Pudlak Syndrome

AP3B1 3393 100% Hermansky‐Pudlak Syndrome 2

AP3B2 3353 96% .

AP3D1 3776 96% .

AP3M1 1289 100% .

AP3M2 1289 100%AP3M2 1289 100% .

AP3S1 606 100% .

AP3S2 606 88% .

AP4B1 2260 100% .

AP4E1 3498 100% .

AP4M1 1457 100% .

AP4S1 721 99% .

APAF1 3851 100% .

APBA1 2562 100% .

APBA2 2433 100% .

APBA3 2061 77% .

APBB1 2185 100% .

APBB1IP 2196 93% .

APBB2 2345 100% .





APBB3 1528 100% .

APC 8766 98% APC‐Associated Polyposis Conditions

APC 8766 98% Colon Cancer (APC I1307K related)

APC 8766 98% Turcot Syndrome

APC2 6968 67% .

APCDD1 1661 91% .

APCDD1L 1522 91% .

APCS 680 100% .

APEH 2341 97% .

APEX1 973 100% .

APEX2 1581 100% .

APH1A 837 99% .

APH1B 798 100% .

API5 1631 100% .

APIP 761 100% .

APITD1 437 87% .

APITD1‐CORT 516 89% .

APLF 1576 94% .

APLN 247 71%APLN 247 71% .

APLNR 1147 100% .

APLP1 2024 92% .

APLP2 2365 96% .

APOA1 907 100% APOA1‐Associated Familial High Density Lipoprotein Deficiency

APOA1 907 100% APOA1‐Related Familial Visceral Amyloidosis

APOA1 907 100% Familial High Density Lipoprotein Deficiency

APOA1 907 100% Familial Visceral Amyloidosis

APOA1BP 1007 100% .

APOA2 429 100% .

APOA4 1203 100% .

APOA5 1113 100% .

APOB 13808 99% Familial Hypercholesterolemia Type B

APOBEC1 731 100% .





APOBEC2 683 100% .

APOBEC3A 1079 95% .

APOBEC3B 1501 98% .

APOBEC3C 655 100% .

APOBEC3D 1189 100% .

APOBEC3F 1358 98% .

APOBEC3G 1187 100% .

APOBEC3H 638 90% .

APOBEC4 1108 100% .

APOBR 3287 99% .

APOC1 264 100% .

APOC2 318 100% Apolipoprotein C‐II Deficiency

APOC3 366 100% .

APOC4 396 100% .

APOD 620 100% .

APOE 989 76% Alzheimer Disease Risk Factor (APOE Genotype)

APOE 989 76% Alzheimer Disease Type 2

APOE 989 76% Cardiovascular Disease Risk Factor (Apolipoprotein E)

APOF 989 100%APOF 989 100% .

APOH 1070 100% .

APOL1 1308 100% .

APOL2 1105 100% .

APOL3 1222 100% .

APOL4 1109 100% .

APOL5 1318 100% .

APOL6 1040 100% .

APOLD1 855 65% .

APOM 698 94% .

APOO 629 98% .

APOOL 843 100% .

APOPT1 641 76% .

APP 2435 96% Alzheimer Disease Type 1





APP 2435 96% Early‐Onset Familial Alzheimer Disease

APPBP2 1810 100% .

APPL1 2218 97% .

APPL2 2079 97% .

APRT 563 79% Adenine Phosphoribosyltransferase Deficiency

APTX 1116 100% Ataxia with Oculomotor Apraxia 1

AQP1 1083 100% .

AQP10 1018 100% .

AQP11 828 100% .

AQP12A 1005 52% .

AQP12B 1004 68% .

AQP2 832 100% Nephrogenic Diabetes Insipidus

AQP2 832 100% Nephrogenic Diabetes Insipidus, Autosomal

AQP3 914 97% .

AQP4 1013 100% .

AQP5 814 100% .

AQP6 865 100% .

AQP7 1111 100% .

AQP8 810 100%AQP8 810 100% .

AQP9 912 100% .

AQPEP 3053 100% .

AQR 4598 100% .

AR 2819 95% Androgen Insensitivity Syndrome

AR 2819 95% Spinal and Bulbar Muscular Atrophy

ARAF 1894 99% .

ARAP1 4599 94% .

ARAP2 5243 100% .

ARAP3 4763 100% .

ARC 1195 96% .

ARCN1 1576 100% .

AREG 1558 65% .

ARF1 562 100% .





ARF3 562 100% .

ARF4 592 100% .

ARF5 567 98% .

ARF6 532 100% .

ARFGAP1 2107 99% .

ARFGAP2 1641 96% .

ARFGAP3 1631 96% .

ARFGEF1 5706 100% .

ARFGEF2 5514 99% Periventricular Heterotopia, Autosomal Recessive

ARFIP1 1154 100% .

ARFIP2 1054 100% .

ARFRP1 638 91% .

ARG1 1025 100% Arginase Deficiency

ARG2 1097 100% .

ARGFX 964 87% .

ARGLU1 1087 100% .

ARHGAP1 1368 95% .

ARHGAP10 2453 100% .

ARHGAP11A 3120 100%ARHGAP11A 3120 100% .

ARHGAP11B 828 100% .

ARHGAP12 2613 100% .

ARHGAP15 1480 100% .

ARHGAP17 2726 98% .

ARHGAP18 2052 100% .

ARHGAP19 1566 100% .

ARHGAP20 3636 100% .

ARHGAP21 6028 100% .

ARHGAP22 2792 66% .

ARHGAP23 4572 50% .

ARHGAP24 2445 100% .

ARHGAP25 2265 99% .

ARHGAP26 2537 100% .





ARHGAP27 2890 77% .

ARHGAP28 1929 100% .

ARHGAP29 3913 100% .

ARHGAP30 3422 100% .

ARHGAP31 4383 100% .

ARHGAP32 6352 100% .

ARHGAP33 4054 94% .

ARHGAP35 4524 100% .

ARHGAP36 1688 100% .

ARHGAP39 3389 94% .

ARHGAP4 3183 90% .

ARHGAP40 1926 90% .

ARHGAP42 2748 86% .

ARHGAP44 2541 94% .

ARHGAP5 4533 100% .

ARHGAP6 3312 92% .

ARHGAP8 1565 100% .

ARHGAP9 2339 96% .

ARHGDIA 635 100%ARHGDIA 635 100% .

ARHGDIB 626 100% .

ARHGDIG 702 89% .

ARHGEF1 3317 96% .

ARHGEF10 4335 100% .

ARHGEF10L 3952 95% .

ARHGEF11 4884 100% .

ARHGEF12 4799 100% .

ARHGEF15 2586 100% .

ARHGEF16 2186 87% .

ARHGEF17 6276 94% .

ARHGEF18 3598 89% .

ARHGEF19 2676 90% .

ARHGEF2 3049 95% .





ARHGEF25 2025 99% .

ARHGEF26 2676 100% .

ARHGEF3 2117 85% .

ARHGEF33 2677 91% .

ARHGEF35 1459 73% .

ARHGEF37 2076 100% .

ARHGEF38 2394 100% .

ARHGEF4 2269 97% .

ARHGEF40 4652 100% .

ARHGEF5 4850 63% .

ARHGEF6 2419 100% X‐Linked Mental Retardation 46

ARHGEF7 2787 96% .

ARHGEF9 1599 100% ARHGEF9‐Related Hyperekplexia

ARHGEF9 1599 100% Hyperekplexia

ARID1A 6940 88% .

ARID1B 6943 82% .

ARID2 5596 100% .

ARID3A 1814 85% .

ARID3B 1839 100%ARID3B 1839 100% .

ARID3C 1267 93% .

ARID4A 3866 100% .

ARID4B 4031 100% .

ARID5A 2129 87% .

ARID5B 3726 100% .

ARIH1 1964 91% .

ARIH2 1538 100% .

ARL1 570 100% .

ARL10 751 76% .

ARL11 595 100% .

ARL13A 1055 100% .

ARL13B 1327 100% ARL13B‐Related Joubert Syndrome

ARL13B 1327 100% Joubert Syndrome





ARL14 583 100% .

ARL15 5 0% .

ARL16 614 100% .

ARL17A 1348 17% .

ARL17B 673 21% .

ARL2 575 98% .

ARL2BP 516 100% .

ARL3 573 100% .

ARL4A 607 100% .

ARL4C 583 100% .

ARL4D 610 100% .

ARL5A 564 100% .

ARL5B 564 100% .

ARL5C 564 89% .

ARL6 589 100% ARL6‐Related Bardet‐Biedl Syndrome

ARL6 589 100% Bardet‐Biedl Syndrome

ARL6IP1 636 100% .

ARL6IP4 1734 61% .

ARL6IP5 579 100%ARL6IP5 579 100% .

ARL6IP6 697 100% .

ARL8A 589 100% .

ARL8B 831 97% .

ARL9 531 100% .

ARMC1 873 100% .

ARMC10 1060 99% .

ARMC12 1128 100% .

ARMC2 2673 100% .

ARMC3 2695 100% .

ARMC4 3211 99% .

ARMC5 3203 100% .

ARMC6 1702 100% .

ARMC7 609 100% .





ARMC8 2136 100% .

ARMC9 2183 100% .

ARMCX1 1366 100% .

ARMCX2 1903 100% .

ARMCX3 1144 100% .

ARMCX4 7023 14% .

ARMCX5 1681 100% .

ARMCX5‐GPRASP2 2521 100% .

ARMCX6 907 75% .

ARMS2 2 0% Age‐Related Macular Degeneration

ARMS2 2 0% Age‐Related Macular Degeneration 8

ARNT 2511 99% .

ARNT2 2230 99% .

ARNTL 2361 100% .

ARNTL2 2012 97% .

ARPC1A 1160 100% .

ARPC1B 1174 82% .

ARPC2 1007 100% .

ARPC3 565 100%ARPC3 565 100% .

ARPC4 589 100% .

ARPC4‐TTLL3 2207 100% .

ARPC5 481 100% .

ARPC5L 478 69% .

ARPM1 1127 100% .

ARPP19 351 100% .

ARPP21 2585 100% .

ARR3 1245 95% .

ARRB1 1324 96% .

ARRB2 1389 97% .

ARRDC1 1389 91% .

ARRDC2 1519 83% .

ARRDC3 1277 100% .





ARRDC4 1289 76% .

ARRDC5 1041 100% .

ARSA 1562 92% Arylsulfatase A Deficiency

ARSB 1667 97% Mucopolysaccharidosis Type VI

ARSD 1822 95% .

ARSE 1810 100% Chondrodysplasia Punctata 1, X‐Linked Recessive

ARSF 1813 100% .

ARSG 1622 100% .

ARSH 1725 100% .

ARSI 1718 100% .

ARSJ 1808 100% .

ARSK 1760 100% .

ART1 1000 100% .

ART3 1474 94% .

ART4 977 100% .

ART5 892 97% .

ARTN 786 67% .

ARV1 836 100% .

ARVCF 2957 96%ARVCF 2957 96% .

ARX 1709 50% ARX‐Related Disorders

ARX 1709 50% X‐Linked Infantile Spasm Syndrome

ARX 1709 50% X‐Linked Lissencephaly with Ambiguous Genitalia

AS3MT 1172 100% .

ASAH1 1399 100% Farber Lipogranulomatosis

ASAH2 2423 40% .

ASAH2B 589 35% .

ASAP1 3507 100% .

ASAP2 3133 100% .

ASAP3 2835 95% .

ASB1 1028 95% .

ASB10 1911 89% .

ASB11 1122 100% .





ASB12 965 100% .

ASB13 861 77% .

ASB14 1942 100% .

ASB15 1803 100% .

ASB16 1471 82% .

ASB17 900 100% .

ASB18 1636 61% .

ASB2 2006 87% .

ASB3 1624 100% .

ASB4 1373 100% .

ASB5 1018 100% .

ASB6 1290 100% .

ASB7 977 100% .

ASB8 879 100% .

ASB9 942 100% .

ASCC1 1377 91% .

ASCC2 2350 100% .

ASCC3 6872 100% .

ASCL1 715 87%ASCL1 715 87% .

ASCL2 586 12% .

ASCL3 550 100% .

ASCL4 526 98% .

ASF1A 631 82% .

ASF1B 625 100% .

ASGR1 1294 100% .

ASGR2 976 100% .

ASH1L 9018 100% .

ASH2L 1951 94% .

ASIP 411 95% .

ASL 1462 100% Argininosuccinate Lyase Deficiency

ASMT 1207 92% .

ASMTL 1932 98% .





ASNA1 1075 100% .

ASNS 1733 100% .

ASNSD1 1944 100% .

ASPA 966 100% Canavan Disease

ASPDH 916 96% .

ASPG 2079 82% .

ASPH 3113 97% .

ASPHD1 1185 100% .

ASPHD2 1122 100% .

ASPM 10597 100% Primary Autosomal Recessive Microcephaly

ASPM 10597 100% Primary Autosomal Recessive Microcephaly Type 5

ASPN 1171 100% .

ASPRV1 1036 100% .

ASPSCR1 2012 90% .

ASRGL1 951 99% .

ASS1 1295 100% Citrullinemia Type I

ASTE1 2060 100% .

ASTL 1332 100% .

ASTN1 4005 100%ASTN1 4005 100% .

ASTN2 4187 93% .

ASUN 2185 100% .

ASXL1 4685 99% .

ASXL2 4356 100% .

ASXL3 6795 100% .

ASZ1 1480 100% .

ATAD1 1122 100% .

ATAD2 4285 100% .

ATAD2B 4489 99% .

ATAD3A 1999 78% .

ATAD3B 2315 82% .

ATAD3C 1284 99% .

ATAD5 5627 100% .





ATAT1 1525 94% .

ATCAY 1164 97% Cerebellar Ataxia, Cayman Type

ATE1 1738 100% .

ATF1 840 100% .

ATF2 1571 100% .

ATF3 622 100% .

ATF4 1064 100% .

ATF5 857 100% .

ATF6 2077 100% .

ATF6B 2264 97% .

ATF7 1529 100% .

ATF7IP 3869 100% .

ATF7IP2 2089 100% .

ATG10 796 100% .

ATG12 588 100% .

ATG13 1721 100% .

ATG14 1519 100% .

ATG16L1 1978 94% .

ATG16L2 2088 78%ATG16L2 2088 78% .

ATG2A 5987 95% .

ATG2B 6405 100% .

ATG3 1066 100% .

ATG4A 1249 100% .

ATG4B 1754 97% .

ATG4C 1418 100% .

ATG4D 1465 88% .

ATG5 856 100% .

ATG7 2186 100% .

ATG9A 2578 100% .

ATG9B 2389 86% .

ATHL1 2506 98% .

ATIC 2017 94% .





ATL1 1715 100% Spastic Paraplegia 3A

ATL2 1917 100% .

ATL3 1754 100% .

ATM 9420 100% Ataxia‐Telangiectasia

ATMIN 2488 95% .

ATN1 3609 95% DRPLA

ATOH1 1069 100% .

ATOH7 463 93% .

ATOH8 978 94% .

ATOX1 219 100% .

ATP10A 4584 99% .

ATP10B 4683 100% .

ATP10D 4387 100% .

ATP11A 3802 99% .

ATP11B 3728 99% .

ATP11C 3582 100% .

ATP12A 3230 100% .

ATP13A1 3719 95% .

ATP13A2 4012 98% Kufor Rakeb SyndromeATP13A2 4012 98% Kufor‐Rakeb Syndrome

ATP13A3 3805 100% .

ATP13A4 3772 100% .

ATP13A5 3785 100% .

ATP1A1 3167 99% .

ATP1A2 3155 100% Familial Hemiplegic Migraine

ATP1A2 3155 100% Familial Hemiplegic Migraine 2

ATP1A3 3808 95% Rapid‐Onset Dystonia‐Parkinsonism

ATP1A4 3178 100% .

ATP1B1 936 100% .

ATP1B2 901 97% .

ATP1B3 868 100% .

ATP1B4 1106 100% .

ATP2A1 3214 100% Brody Myopathy





ATP2A2 3227 100% Darier‐White Disease

ATP2A3 3295 88% .

ATP2B1 3901 100% .

ATP2B2 3820 100% .

ATP2B3 3912 97% .

ATP2B4 3888 100% .

ATP2C1 3090 100% Benign Chronic Pemphigus

ATP2C2 3210 96% .

ATP4A 3196 100% .

ATP4B 904 95% .

ATP5A1 1710 100% .

ATP5B 1630 100% .

ATP5C1 941 100% .

ATP5D 523 68% .

ATP5E 164 100% .

ATP5F1 799 100% .

ATP5G1 503 100% .

ATP5G2 617 100% .

ATP5G3 445 100%ATP5G3 445 100% .

ATP5H 506 100% .

ATP5I 226 74% .

ATP5J 367 99% .

ATP5J2 331 100% .

ATP5J2‐PTCD1 2334 100% .

ATP5L 324 100% .

ATP5L2 307 100% .

ATP5O 687 96% .

ATP5S 718 100% .

ATP5SL 838 95% .

ATP6AP1 1570 90% .

ATP6AP1L 691 100% .

ATP6AP2 1185 89% X‐Linked Mental Retardation with Epilepsy





ATP6V0A1 2619 100% .

ATP6V0A2 2651 100% ATP6V0A2‐Related Cutis Laxa

ATP6V0A4 2603 100% Renal Tubular Acidosis, Distal, Autosomal Recessive

ATP6V0B 650 90% .

ATP6V0C 480 100% .

ATP6V0D1 1088 100% .

ATP6V0D2 1085 100% .

ATP6V0E1 258 100% .

ATP6V0E2 887 77% .

ATP6V1A 1910 100% .

ATP6V1B1 1792 100% Distal Renal Tubular Acidosis with Progressive Sensorineural Deafness

ATP6V1B2 1592 100% .

ATP6V1C1 1197 100% .

ATP6V1C2 1336 100% .

ATP6V1D 780 100% .

ATP6V1E1 717 100% .

ATP6V1E2 685 100% .

ATP6V1F 456 100% .

ATP6V1G1 369 96%ATP6V1G1 369 96% .

ATP6V1G2 405 91% .

ATP6V1G3 419 100% .

ATP6V1H 1504 100% .

ATP7A 4615 100% ATP7A‐Related Copper Transport Disorders

ATP7A 4615 100% Menkes Disease

ATP7B 4482 100% Wilson Disease

ATP8A1 3740 99% .

ATP8A2 3732 95% .

ATP8B1 4077 98% ATP8B1‐Related Intrahepatic Cholestasis

ATP8B1 4077 98% Low Gamma‐GT Familial Intrahepatic Cholestasis

ATP8B2 3914 100% .

ATP8B3 4360 96% .

ATP8B4 3687 100% .





ATP9A 3256 98% .

ATP9B 3564 98% .

ATPAF1 1024 74% .

ATPAF1‐AS1 2 0% .

ATPAF2 902 100% Nuclear‐Encoded ATPase Deficiency, ATPAF2‐Related

ATPBD4 1030 97% .

ATPIF1 378 100% .

ATR 8195 100% Seckel Syndrome

ATRIP 2428 100% .

ATRN 4431 91% .

ATRNL1 4338 99% .

ATRX 7635 100% Alpha‐Thalassemia X‐Linked Intellectual Disability Syndrome

ATXN1 2456 100% Spinocerebellar Ataxia Type 1

ATXN10 1558 93% Spinocerebellar Ataxia Type10

ATXN1L 2074 0% .


ATXN2L 3552 98% .


ATXN3L 1072 100%ATXN3L 1072 100% .


ATXN7L1 2877 98% .

ATXN7L2 2213 99% .

ATXN7L3 1113 100% .

ATXN7L3B 1 0% .

AUH 1060 84% 3‐Methylglutaconic Aciduria Type 1

AUP1 1640 93% .

AURKA 1259 100% .

AURKAIP1 612 90% .

AURKB 1067 100% .

AURKC 963 95% Male Infertility with Large‐Headed, Multiflagellar, Polyploid Spermatozoa

AUTS2 4044 98% .

AVEN 1113 76% .





AVIL 2536 100% .

AVL9 2150 96% .

AVP 507 53% Neurohypophyseal Diabetes Insipidus

AVPI1 616 100% .

AVPR1A 1265 100% .

AVPR1B 1283 100% .

AVPR2 1338 94% Nephrogenic Diabetes Insipidus

AVPR2 1338 94% Nephrogenic Diabetes Insipidus, X‐Linked

AWAT1 1015 100% .

AWAT2 1202 98% .

AXDND1 3188 100% .

AXIN1 2687 95% .

AXIN2 2572 99% Oligodontia‐Colorectal Cancer Syndrome

AXL 2765 99% .

AZGP1 993 100% .

AZI1 3352 96% .

AZI2 1296 100% .

AZIN1 1387 100% .

AZU1 821 93%AZU1 821 93% .

B2M 395 100% .

B3GALNT1 1034 100% .

B3GALNT2 1568 93% .

B3GALT1 985 100% .

B3GALT2 1273 100% .

B3GALT4 1145 100% .

B3GALT5 937 100% .

B3GALT6 994 54% .

B3GALTL 1557 95% Peters Plus Syndrome

B3GAT1 1021 99% .

B3GAT2 988 95% .

B3GAT3 1028 100% .

B3GNT1 1256 91% .





B3GNT2 1198 100% .

B3GNT3 1127 100% .

B3GNT4 1145 100% .

B3GNT5 1141 100% .

B3GNT6 1162 93% .

B3GNT7 1214 99% .

B3GNT8 1198 100% .

B3GNT9 1213 88% .

B3GNTL1 1134 93% .

B4GALNT1 1917 88% .

B4GALNT2 1763 98% .

B4GALNT3 3080 95% .

B4GALNT4 3200 71% .

B4GALT1 1221 99% B4GALT1‐CDG (CDG‐IId)

B4GALT1 1221 99% Congenital Disorders of Glycosylation

B4GALT2 1234 97% .

B4GALT3 1206 100% .

B4GALT4 1063 100% .

B4GALT5 1203 100%B4GALT5 1203 100% .

B4GALT6 1185 100% .

B4GALT7 1027 95% .

B7H6 1385 95% .

B9D1 1094 92% .

B9D2 540 100% .

BAALC 450 84% .

BAAT 1269 100% BAAT‐Related Familial Hypercholanemia

BABAM1 1179 100% .

BACE1 1596 93% .

BACE2 1593 88% .

BACH1 2227 100% .

BACH2 2542 100% .

BAD 593 94% .





BAG1 1085 94% .

BAG2 648 100% .

BAG3 1744 100% BAG3‐Related Myofibrillar Myopathy

BAG3 1744 100% Myofibrillar Myopathy

BAG4 1394 96% .

BAG5 1475 100% .

BAG6 3690 94% .

BAGE 2 0% .

BAGE2 4 0% .

BAGE3 4 0% .

BAGE4 2 0% .

BAGE5 2 0% .

BAHCC1 7757 90% .

BAHD1 2367 100% .

BAI1 4875 80% .

BAI2 4882 90% .

BAI3 4689 100% .

BAIAP2 2090 92% .

BAIAP2L1 1592 97%BAIAP2L1 1592 97% .

BAIAP2L2 1646 79% .

BAIAP3 3865 94% .

BAK1 747 90% .

BAMBI 795 93% .

BANF1 278 100% .

BANF2 282 100% .

BANK1 2422 97% .

BANP 1663 100% .

BAP1 2327 98% .

BARD1 2378 100% .

BARHL1 996 100% .

BARHL2 1176 99% .

BARX1 781 63% .





BARX2 856 100% .

BASP1 688 81% .

BATF 390 100% .

BATF2 837 98% .

BATF3 396 77% .

BAX 786 97% .

BAZ1A 4775 100% .

BAZ1B 4528 98% .

BAZ2A 5834 100% .

BAZ2B 6752 100% .

BBC3 802 56% .

BBIP1 6 0% .

BBOX1 1192 100% .

BBS1 1883 99% Bardet‐Biedl Syndrome

BBS1 1883 99% BBS1‐Related Bardet‐Biedl Syndrome




BBS12 2137 100% BBS12 Related Bardet Biedl SyndromeBBS12 2137 100% BBS12‐Related Bardet‐Biedl Syndrome











BBX 2957 100% .

BCAM 1951 94% .

BCAN 2862 100% .





BCAP29 1079 100% .

BCAP31 974 83% .

BCAR1 2993 90% .

BCAR3 2522 100% .

BCAS1 1862 100% .

BCAS2 706 100% .

BCAS3 2885 100% .

BCAS4 733 61% .

BCAT1 1207 100% Hyperleucine‐Isoleucinemia

BCAT2 1223 100% Hyperleucine‐Isoleucinemia

BCCIP 1205 100% .

BCDIN3D 887 100% .

BCHE 1821 100% Butyrylcholinesterase Deficiency

BCKDHA 1449 99% Maple Syrup Urine Disease

BCKDHA 1449 99% Maple Syrup Urine Disease Type 1A

BCKDHB 1219 96% Maple Syrup Urine Disease

BCKDHB 1219 96% Maple Syrup Urine Disease Type 1B

BCKDK 1287 100% .

BCL10 714 100%BCL10 714 100% .

BCL11A 2651 100% .

BCL11B 2701 97% .

BCL2 761 100% .

BCL2A1 596 100% .

BCL2L1 710 100% .

BCL2L10 623 88% .

BCL2L11 1055 88% .

BCL2L12 1033 97% .

BCL2L13 1488 100% .

BCL2L14 1096 100% .

BCL2L15 534 100% .

BCL2L2 590 100% .

BCL2L2‐PABPN1 1040 100% .





BCL3 1461 79% .

BCL6 2253 100% .

BCL6B 1472 100% .

BCL7A 720 97% .

BCL7B 633 96% .

BCL7C 678 100% .

BCL9 4309 100% .

BCL9L 4532 97% .

BCLAF1 2807 100% .

BCMO1 1688 100% .

BCO2 1848 100% .

BCOR 5328 100% BCOR‐Related Lenz Microphthalmia Syndrome

BCOR 5328 100% Lenz Microphthalmia Syndrome

BCOR 5328 100% Syndromic Microphthalmia 2

BCORL1 5184 99% .

BCR 3909 96% .

BCS1L 1288 100% Gracile Syndrome

BCS1L 1288 100% Leigh Syndrome (nuclear DNA mutation)

BCS1L 1288 100% Mitochondrial Respiratory Chain Complex III Deficiency BCS1L RelatedBCS1L 1288 100% Mitochondrial Respiratory Chain Complex III Deficiency, BCS1L‐Related

BDH1 1167 100% .

BDH2 900 100% .

BDKRB1 1066 100% .

BDKRB2 1184 100% .

BDNF 1034 100% .

BDP1 8112 100% .

BEAN1 770 95% .

BECN1 1397 100% .

BEGAIN 1809 95% .

BEND2 2482 94% .

BEND3 2499 100% .

BEND4 1723 75% .

BEND5 1290 90% .





BEND6 860 100% .

BEND7 1505 100% .

BEST1 2257 86% Best Vitelliform Macular Dystrophy

BEST1 2257 86% BEST1‐Related Retinitis Pigmentosa

BEST1 2257 86% Vitreoretinochoroidopathy

BEST2 1566 82% .

BEST3 2043 100% .

BEST4 1458 62% .

BET1 469 100% .

BET1L 489 96% .

BET3L 566 100% .

BEX1 382 100% .

BEX2 394 99% .

BEX4 367 100% .

BEX5 340 100% .

BFAR 1381 100% .

BFSP1 2036 79% .

BFSP2 1276 100% .

BGLAP 319 97%BGLAP 319 97% .

BGN 1186 100% .

BHLHA15 574 85% .

BHLHA9 712 1% .

BHLHB9 1648 100% .

BHLHE22 1150 81% .

BHLHE23 682 51% .

BHLHE40 1524 99% .

BHLHE41 1469 62% .

BHMT 1253 100% .

BHMT2 1124 97% .

BICC1 3119 100% .

BICD1 3052 100% .

BICD2 2606 97% .





BID 750 100% .

BIK 499 81% .

BIN1 1907 84% Myotubular Myopathy, Recessive

BIN2 1750 100% .

BIN3 798 98% .

BIRC2 1889 100% .

BIRC3 1847 100% .

BIRC5 621 100% .

BIRC6 14870 100% .

BIRC7 1109 100% .

BIRC8 715 100% .

BIVM 1569 100% .

BIVM‐ERCC5 5147 100% .

BLCAP 268 100% .

BLID 331 100% .

BLK 1566 100% .

BLM 4338 100% Bloom's Syndrome

BLMH 1416 99% .

BLNK 1482 100%BLNK 1482 100% .

BLOC1S1 394 100% .

BLOC1S2 449 100% .

BLOC1S3 613 58% Hermansky‐Pudlak Syndrome

BLOC1S3 613 58% Hermansky‐Pudlak Syndrome 8

BLVRA 1046 100% .

BLVRB 641 99% .

BLZF1 1284 100% .

BMF 567 100% .

BMI1 1017 100% .

BMP1 3131 100% .

BMP10 1283 100% .

BMP15 1187 99% Ovarian Dysgenesis 2

BMP2 1199 99% .





BMP2K 3588 96% .

BMP3 1431 100% .

BMP4 1235 100% Cleft Lip +/‐ Cleft Palate

BMP5 1393 100% .

BMP6 1570 88% .

BMP7 1417 88% .

BMP8A 1237 75% .

BMP8B 1264 71% .

BMPER 2119 100% .

BMPR1A 1643 100% BMPR1A‐Related Juvenile Polyposis

BMPR1A 1643 100% Juvenile Polyposis Syndrome

BMPR1B 1571 100% Brachydactyly Type A2

BMPR2 3169 100% Heritable Pulmonary Arterial Hypertension

BMS1 3937 100% .

BMX 2100 100% .

BNC1 3005 97% .

BNC2 3328 100% .

BNIP1 844 100% .

BNIP2 1348 85%BNIP2 1348 85% .

BNIP3 609 95% .

BNIP3L 684 100% .

BNIPL 1114 100% .

BOC 3518 99% .

BOD1 602 93% .

BOD1L 9260 99% .

BOK 655 80% .

BOLA1 418 100% .

BOLA2 942 0% .

BOLA2B 942 0% .

BOLA3 411 86% .

BOLL 1020 100% .

BOP1 2305 10% .





BORA 1739 100% .

BPGM 788 100% .

BPHL 904 98% .

BPI 1571 100% .

BPIFA1 799 100% .

BPIFA2 778 100% .

BPIFA3 793 100% .

BPIFB1 1515 100% .

BPIFB2 1437 100% .

BPIFB3 1491 100% .

BPIFB4 1909 100% .

BPIFB6 1422 100% .

BPIFC 1588 100% .

BPNT1 959 100% .

BPTF 9265 96% .

BPY2 1011 2% .

BPY2B 1011 2% .

BPY2C 1011 2% .

BRAF 2373 94% BRAF Related Cardiofaciocutaneous SyndromeBRAF 2373 94% BRAF‐Related Cardiofaciocutaneous Syndrome

BRAF 2373 94% BRAF‐Related LEOPARD Syndrome

BRAF 2373 94% Cardiofaciocutaneous Syndrome

BRAF 2373 94% LEOPARD Syndrome

BRAP 1827 100% .

BRAT1 3710 97% .

BRCA1 5750 100% BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer

BRCA1 5750 100% BRCA1 Hereditary Breast and Ovarian Cancer

BRCA2 10361 100% BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer

BRCA2 10361 100% BRCA2 Hereditary Breast and Ovarian Cancer

BRCA2 10361 100% BRCA2‐Related Fanconi Anemia

BRCA2 10361 100% Fanconi Anemia

BRCA2 10361 100% Pancreatic Cancer Susceptibility 2

BRCA2 10361 100% Prostate Cancer





BRCC3 1067 100% .

BRD1 3618 100% .

BRD2 2637 93% .

BRD3 2225 98% .

BRD4 4180 94% .

BRD7 2027 100% .

BRD8 4191 100% .

BRD9 2099 92% .

BRDT 2952 100% .

BRE 1440 100% .

BRF1 2497 93% .

BRF2 1276 100% .

BRI3 391 62% .

BRI3BP 768 93% .

BRIP1 3906 100% BRIP1‐Related Fanconi Anemia

BRIP1 3906 100% Fanconi Anemia

BRIX1 1102 94% .

BRK1 3 0% .

BRMS1 921 100%BRMS1 921 100% .

BRMS1L 1012 100% .

BROX 1284 100% .

BRP44 404 80% .

BRP44L 342 100% .

BRPF1 3715 100% .

BRPF3 3681 97% .

BRS3 1212 100% .

BRSK1 2413 92% .

BRSK2 2087 93% .

BRWD1 7384 99% .

BRWD3 5573 100% X‐Linked Mental Retardation 93

BSCL2 1482 100% Berardinelli‐Seip Congenital Lipodystrophy

BSCL2 1482 100% Berardinelli‐Seip Congenital Lipodystrophy Type 2





BSCL2 1482 100% BSCL2‐Related Neurologic Disorders/Seipinopathy

BSDC1 1504 100% .

BSG 1226 92% .

BSN 11821 98% .

BSND 979 100% Bartter Syndrome Type 4A

BSPH1 419 100% .

BSPRY 1233 84% .

BST1 996 93% .

BST2 559 100% .

BSX 714 97% .

BTAF1 5702 100% .

BTBD1 1481 97% .

BTBD10 1460 100% .

BTBD11 3488 82% .

BTBD16 1584 100% .

BTBD17 1661 79% .

BTBD18 2147 0% .

BTBD19 908 78% .

BTBD2 1614 85%BTBD2 1614 85% .

BTBD3 1585 100% .

BTBD6 1474 86% .

BTBD7 3547 100% .

BTBD8 1258 100% .

BTBD9 1978 95% .

BTC 557 88% .

BTD 1648 100% Biotinidase Deficiency

BTF3 645 82% .

BTF3L4 497 100% .

BTG1 524 100% .

BTG2 485 92% .

BTG3 911 100% .

BTG4 803 100% .





BTK 2052 100% X‐Linked Agammaglobulinemia

BTLA 890 100% .

BTN1A1 1609 100% .

BTN2A1 1722 99% .

BTN2A2 1728 98% .

BTN3A1 1746 90% .

BTN3A2 1034 100% .

BTN3A3 1791 100% .

BTNL2 1434 97% .

BTNL3 1541 86% .

BTNL8 1691 87% .

BTNL9 1720 90% .

BTRC 1891 98% .

BUB1 3358 100% .

BUB1B 3302 100% .

BUB3 1040 100% .

BUD13 1900 99% .

BUD31 451 100% .

BVES 1111 100%BVES 1111 100% .

BYSL 1342 100% .

BZRAP1 5698 94% .

BZW1 1416 93% .

BZW2 1304 100% .

C10orf10 643 100% .

C10orf105 411 33% .

C10orf107 751 100% .

C10orf11 621 100% .

C10orf111 472 100% .

C10orf113 446 100% .

C10orf114 419 94% .

C10orf116 243 79% .

C10orf118 2761 100% .





C10orf12 3748 100% .

C10orf120 1020 100% .

C10orf122 577 100% .

C10orf125 500 62% .

C10orf128 396 100% .

C10orf129 1483 100% .

C10orf131 546 100% .

C10orf137 4140 98% .

C10orf140 2731 86% .

C10orf2 2090 100% C10orf2‐Related Ataxia Neuropathy Spectrum Disorders

C10orf2 2090 100% C10orf2‐Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form

C10orf2 2090 100% Infantile‐Onset Spinocerebellar Ataxia

C10orf2 2090 100% Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form

C10orf2 2090 100% Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 3

C10orf25 377 100% .

C10orf26 1139 94% .

C10orf27 1196 100% .

C10orf28 2361 100% .

C10orf32 341 100%C10orf32 341 100% .

C10orf35 409 100% .

C10orf46 1146 100% .

C10orf47 1320 63% .

C10orf53 620 84% .

C10orf54 987 100% .

C10orf55 542 100% .

C10orf58 711 100% .

C10orf62 676 100% .

C10orf67 578 100% .

C10orf68 1970 100% .

C10orf71 4402 100% .

C10orf76 2353 100% .

C10orf81 1704 100% .





C10orf82 579 100% .

C10orf88 1362 94% .

C10orf90 2136 100% .

C10orf91 450 96% .

C10orf95 782 39% .

C10orf96 813 100% .

C10orf99 258 100% .

C11orf1 469 100% .

C11orf10 252 100% .

C11orf16 1424 100% .

C11orf2 2389 97% .

C11orf20 623 84% .

C11orf21 553 74% .

C11orf24 1358 100% .

C11orf30 4052 100% .

C11orf31 381 77% .

C11orf34 640 72% .

C11orf35 1961 84% .

C11orf40 670 93%C11orf40 670 93% .

C11orf41 5648 100% .

C11orf42 1014 100% .

C11orf45 450 100% .

C11orf46 795 100% .

C11orf48 1008 100% .

C11orf49 1218 100% .

C11orf51 382 100% .

C11orf52 388 100% .

C11orf53 723 100% .

C11orf54 826 100% .

C11orf57 902 100% .

C11orf58 572 100% .

C11orf61 1696 97% .





C11orf63 2433 100% .

C11orf65 974 100% .

C11orf67 381 100% .

C11orf68 890 86% .

C11orf70 836 86% .

C11orf71 452 100% .

C11orf73 660 95% .

C11orf74 686 100% .

C11orf75 184 100% .

C11orf80 2105 92% .

C11orf82 3013 100% .

C11orf83 290 98% .

C11orf84 1170 100% .

C11orf85 683 100% .

C11orf86 442 13% .

C11orf87 598 100% .

C11orf88 619 86% .

C11orf9 3713 88% .

C11orf91 590 87%C11orf91 590 87% .

C11orf93 473 100% .

C11orf94 309 86% .

C11orf95 2057 10% .

C11orf96 1012 25% .

C12orf10 1159 100% .

C12orf12 1225 100% .

C12orf23 359 100% .

C12orf24 850 83% .

C12orf26 1860 100% .

C12orf29 1145 100% .

C12orf32 3 0% .

C12orf34 1367 96% .

C12orf35 5256 100% .





C12orf39 375 94% .

C12orf4 1711 100% .

C12orf40 2034 100% .

C12orf42 1111 100% .

C12orf43 816 97% .

C12orf44 665 100% .

C12orf45 574 100% .

C12orf49 638 100% .

C12orf5 837 100% .

C12orf50 1293 100% .

C12orf51 12406 98% .

C12orf52 818 100% .

C12orf53 869 99% .

C12orf54 412 100% .

C12orf56 1935 74% .

C12orf57 393 100% .

C12orf59 524 100% .

C12orf60 742 100% .

C12orf61 400 57%C12orf61 400 57% .

C12orf62 178 100% .

C12orf65 587 100% .

C12orf66 1350 100% .

C12orf68 589 99% .

C12orf69 682 100% .

C12orf70 1064 84% .

C12orf71 889 100% .

C12orf73 224 100% .

C12orf74 581 100% .

C12orf75 5 0% .

C12orf76 424 58% .

C12orf77 454 98% .

C13orf15 434 87% .





C13orf16 476 100% .

C13orf26 898 100% .

C13orf27 704 100% .

C13orf30 432 100% .

C13orf33 932 98% .

C13orf35 374 100% .

C14orf1 439 100% .

C14orf101 2188 94% .

C14orf102 3551 100% .

C14orf105 915 100% .

C14orf109 518 100% .

C14orf118 1601 100% .

C14orf119 427 100% .

C14orf126 519 94% .

C14orf129 428 100% .

C14orf132 2 0% .

C14orf133 1558 100% .

C14orf135 2866 100% .

C14orf142 311 100%C14orf142 311 100% .

C14orf149 1085 98% .

C14orf159 1914 100% .

C14orf166 767 100% .

C14orf166B 1860 96% .

C14orf169 1 0% .

C14orf176 678 0% .

C14orf177 386 100% .

C14orf178 392 91% .

C14orf180 499 40% .

C14orf182 336 100% .

C14orf183 995 92% .

C14orf2 244 77% .

C14orf21 1951 100% .





C14orf28 949 100% .

C14orf37 2407 100% .

C14orf38 2405 96% .

C14orf39 1832 100% .

C14orf43 3182 100% .

C14orf45 1638 100% .

C14orf49 2996 97% .

C14orf79 998 100% .

C14orf80 1347 71% .

C14orf93 1641 100% .

C15orf17 617 85% .

C15orf2 3475 100% .

C15orf23 1030 100% .

C15orf24 749 100% .

C15orf26 976 99% .

C15orf27 1636 97% .

C15orf29 951 100% .

C15orf32 549 100% .

C15orf33 1587 100%C15orf33 1587 100% .

C15orf38 705 86% .

C15orf38‐AP3S2 1225 92% .

C15orf39 3152 100% .

C15orf40 666 100% .

C15orf41 890 98% .

C15orf42 5821 99% .

C15orf43 691 100% .

C15orf44 1647 100% .

C15orf48 268 100% .

C15orf52 1912 99% .

C15orf53 548 100% .

C15orf54 556 100% .

C15orf55 3427 100% .





C15orf56 494 65% .

C15orf57 601 100% .

C15orf58 1162 100% .

C15orf59 890 100% .

C15orf60 825 100% .

C15orf61 482 92% .

C15orf62 532 100% .

C15orf63 417 100% .

C16orf11 1724 94% .

C16orf13 710 57% .

C16orf3 358 81% .

C16orf42 963 80% .

C16orf45 698 92% .

C16orf46 1224 100% .

C16orf48 1168 89% .

C16orf5 803 99% .

C16orf52 3 0% .

C16orf53 777 94% .

C16orf54 679 75%C16orf54 679 75% .

C16orf55 509 92% .

C16orf57 942 84% .

C16orf58 1742 95% .

C16orf59 1342 85% .

C16orf61 252 100% .

C16orf62 3350 98% .

C16orf7 2146 77% .

C16orf70 1333 95% .

C16orf71 1595 99% .

C16orf72 844 80% .

C16orf73 1469 100% .

C16orf74 243 96% .

C16orf78 818 100% .





C16orf79 711 99% .

C16orf80 606 100% .

C16orf82 658 97% .

C16orf86 1461 95% .

C16orf87 481 100% .

C16orf88 1393 100% .

C16orf89 1492 86% .

C16orf90 620 100% .

C16orf91 1169 100% .

C16orf92 415 100% .

C16orf93 1125 79% .

C16orf95 496 99% .

C16orf96 3211 25% .

C17orf100 499 92% .

C17orf101 1173 93% .

C17orf102 512 100% .

C17orf103 3 0% .

C17orf104 2912 98% .

C17orf105 515 0%C17orf105 515 0% .

C17orf107 585 57% .

C17orf108 309 100% .

C17orf109 311 100% .

C17orf110 1 0% .

C17orf28 2443 94% .

C17orf39 927 77% .

C17orf46 1175 100% .

C17orf47 1721 100% .

C17orf48 1041 100% .

C17orf49 603 96% .

C17orf50 537 32% .

C17orf51 674 100% .

C17orf53 1984 100% .





C17orf56 1626 84% .

C17orf57 3010 100% .

C17orf58 427 100% .

C17orf59 1078 95% .

C17orf61 358 99% .

C17orf62 1031 94% .

C17orf63 1697 100% .

C17orf64 735 95% .

C17orf65 586 54% .

C17orf66 1866 100% .

C17orf67 357 100% .

C17orf70 2665 93% .

C17orf72 808 12% .

C17orf74 1518 100% .

C17orf75 1231 100% .

C17orf77 736 100% .

C17orf78 856 100% .

C17orf79 571 82% .

C17orf80 1873 100%C17orf80 1873 100% .

C17orf81 1088 100% .

C17orf82 760 92% .

C17orf85 1915 99% .

C17orf89 237 14% .

C17orf90 452 92% .

C17orf96 1144 29% .

C17orf97 1280 76% .

C17orf98 477 100% .

C17orf99 1120 74% .

C18orf1 1022 99% .

C18orf21 758 100% .

C18orf25 1228 100% .

C18orf26 645 100% .





C18orf32 239 100% .

C18orf34 2688 100% .

C18orf42 212 0% .

C18orf54 1630 100% .

C18orf56 509 58% .

C18orf62 318 100% .

C18orf63 2106 100% .

C18orf8 2054 100% .

C19orf10 546 88% .

C19orf12 471 94% .

C19orf18 672 100% .

C19orf21 2056 100% .

C19orf24 411 31% .

C19orf25 702 87% .

C19orf26 1461 92% .

C19orf29 2531 94% .

C19orf33 337 99% .

C19orf35 1434 73% .

C19orf38 721 96%C19orf38 721 96% .

C19orf40 664 100% .

C19orf42 248 100% .

C19orf43 543 40% .

C19orf44 2002 100% .

C19orf45 1769 84% .

C19orf46 1284 98% .

C19orf47 1305 94% .

C19orf48 358 100% .

C19orf51 1878 79% .

C19orf52 791 53% .

C19orf53 312 100% .

C19orf54 1086 94% .

C19orf55 1584 99% .





C19orf57 1942 100% .

C19orf59 592 100% .

C19orf6 1907 65% .

C19orf60 850 63% .

C19orf63 908 87% .

C19orf66 908 97% .

C19orf69 468 100% .

C19orf70 373 73% .

C19orf71 646 48% .

C19orf73 394 100% .

C19orf75 614 100% .

C19orf76 470 37% .

C19orf77 409 83% .

C19orf79 242 52% .

C19orf80 635 97% .

C19orf81 617 62% .

C1D 451 100% .

C1GALT1 1146 100% .

C1GALT1C1 961 100%C1GALT1C1 961 100% .

C1orf100 460 100% .

C1orf101 3002 96% .

C1orf105 580 100% .

C1orf106 2032 82% .

C1orf109 628 100% .

C1orf110 921 100% .

C1orf111 798 100% .

C1orf112 2673 100% .

C1orf114 1550 100% .

C1orf115 437 49% .

C1orf116 1818 100% .

C1orf122 492 62% .

C1orf123 515 100% .





C1orf124 1525 100% .

C1orf127 2092 99% .

C1orf129 1926 100% .

C1orf130 321 100% .

C1orf131 917 100% .

C1orf135 1086 96% .

C1orf141 1227 100% .

C1orf144 603 91% .

C1orf146 563 100% .

C1orf150 586 100% .

C1orf151‐NBL1 578 93% .

C1orf158 601 100% .

C1orf159 1353 80% .

C1orf162 488 100% .

C1orf168 2271 100% .

C1orf172 1209 100% .

C1orf173 4649 100% .

C1orf174 748 100% .

C1orf177 1362 97%C1orf177 1362 97% .

C1orf182 390 100% .

C1orf185 620 100% .

C1orf186 539 100% .

C1orf187 1074 100% .

C1orf189 322 100% .

C1orf190 728 100% .

C1orf192 554 100% .

C1orf194 501 100% .

C1orf198 1000 98% .

C1orf201 1464 88% .

C1orf204 732 68% .

C1orf21 386 100% .

C1orf210 2 0% .





C1orf212 1 0% .

C1orf216 694 100% .

C1orf226 960 87% .

C1orf227 305 100% .

C1orf228 1367 88% .

C1orf229 718 12% .

C1orf27 1417 100% .

C1orf31 393 100% .

C1orf35 824 88% .

C1orf38 1956 95% .

C1orf43 794 100% .

C1orf49 1032 96% .

C1orf50 620 90% .

C1orf51 1178 100% .

C1orf52 561 100% .

C1orf53 450 96% .

C1orf54 416 100% .

C1orf55 1384 100% .

C1orf56 1034 100%C1orf56 1034 100% .

C1orf61 519 100% .

C1orf63 946 100% .

C1orf64 518 100% .

C1orf65 1876 98% .

C1orf68 757 100% .

C1orf74 814 100% .

C1orf85 1245 97% .

C1orf86 992 93% .

C1orf87 1685 100% .

C1orf88 664 100% .

C1orf9 4120 98% .

C1orf94 1825 80% .

C1orf95 430 93% .





C1orf96 825 89% .

C1QA 852 100% .

C1QB 770 100% .

C1QBP 873 73% .

C1QC 746 100% .

C1QL1 785 99% .

C1QL2 872 82% .

C1QL3 776 97% .

C1QL4 725 86% .

C1QTNF1 875 100% .

C1QTNF2 1005 100% .

C1QTNF3 984 100% .

C1QTNF4 994 74% .

C1QTNF5 740 66% Late‐Onset Retinal Degeneration

C1QTNF6 919 99% .

C1QTNF7 903 98% .

C1QTNF8 767 95% .

C1QTNF9 1036 99% .

C1QTNF9B 1014 100%C1QTNF9B 1014 100% .

C1QTNF9B‐AS1 777 100% .

C1R 1915 96% .

C1RL 1488 100% .

C1S 2186 100% .

C2 4039 97% .

C20orf11 703 100% .

C20orf111 891 100% .

C20orf112 1372 99% .

C20orf118 672 100% .

C20orf123 1713 65% .

C20orf132 3342 89% .

C20orf141 506 100% .

C20orf144 470 57% .





C20orf151 2047 83% .

C20orf152 1779 100% .

C20orf160 1370 65% .

C20orf166 424 100% .

C20orf173 775 100% .

C20orf177 1156 100% .

C20orf194 3744 96% .

C20orf195 961 100% .

C20orf196 630 100% .

C20orf197 389 100% .

C20orf20 635 76% .

C20orf201 731 30% .

C20orf202 377 100% .

C20orf203 2 0% .

C20orf24 606 81% .

C20orf26 4028 100% .

C20orf27 1113 100% .

C20orf29 611 100% .

C20orf3 1287 96%C20orf3 1287 96% .

C20orf30 572 68% .

C20orf4 1167 100% .

C20orf43 957 99% .

C20orf54 1477 97% Brown‐Vialetto‐Van Laere Syndrome

C20orf7 1102 100% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes)

C20orf72 1128 100% .

C20orf79 475 100% .

C20orf85 430 100% .

C20orf94 1255 100% .

C20orf96 1329 96% .

C21orf2 1159 88% .

C21orf33 917 96% Anophthalmia/Microphthalmia

C21orf56 1039 91% .





C21orf58 1170 60% .

C21orf59 1021 99% .

C21orf62 664 100% .

C21orf63 1399 97% .

C21orf7 757 76% .

C21orf91 910 100% .

C22orf13 936 88% .

C22orf15 718 99% .

C22orf23 678 100% .

C22orf24 491 100% .

C22orf25 1150 98% .

C22orf26 425 38% .

C22orf28 1566 100% .

C22orf29 1099 100% .

C22orf31 885 100% .

C22orf32 332 100% .

C22orf33 863 100% .

C22orf39 496 84% .

C22orf40 666 99%C22orf40 666 99% .

C22orf42 792 90% .

C22orf43 740 100% .

C22orf46 740 10% .

C2CD2 2219 91% .

C2CD2L 2180 98% .

C2CD3 6016 100% .

C2CD4A 1114 45% .

C2CD4B 1099 29% .

C2CD4C 1270 29% .

C2CD4D 1066 0% .

C2orf15 386 100% .

C2orf16 5959 100% .

C2orf18 1140 93% .





C2orf27A 620 5% .

C2orf27B 638 8% .

C2orf28 883 78% .

C2orf29 1570 93% .

C2orf40 463 83% .

C2orf42 1757 100% .

C2orf43 1020 100% .

C2orf44 2178 100% .

C2orf47 896 100% .

C2orf48 492 98% .

C2orf49 829 99% .

C2orf50 501 100% .

C2orf51 555 100% .

C2orf53 1243 100% .

C2orf54 1435 99% .

C2orf55 2935 80% .

C2orf56 1366 100% .

C2orf57 1192 100% .

C2orf61 790 100%C2orf61 790 100% .

C2orf62 1204 100% .

C2orf63 1805 100% .

C2orf65 1633 99% .

C2orf66 362 100% .

C2orf67 3154 100% .

C2orf68 745 100% .

C2orf69 1166 79% .

C2orf70 622 93% .

C2orf71 3875 100% C2orf71‐Related Retinitis Pigmentosa

C2orf71 3875 100% Retinitis Pigmentosa, Autosomal Recessive

C2orf72 900 29% .

C2orf73 884 100% .

C2orf74 607 80% .





C2orf76 413 100% .

C2orf77 1695 100% .

C2orf78 2781 99% .

C2orf80 682 100% .

C2orf81 1783 72% .

C2orf82 378 22% .

C2orf83 564 86% .

C2orf84 641 100% .

C2orf88 292 100% .

C2orf89 1395 99% .

C3 5156 100% Age‐Related Macular Degeneration

C3 5156 100% Age‐Related Macular Degeneration 9

C3 5156 100% Atypical Hemolytic‐Uremic Syndrome

C3 5156 100% C3 Deficiency, Autosomal Recessive

C3 5156 100% C3‐Related Atypical Hemolytic‐Uremic Syndrome

C3AR1 1453 100% .

C3orf14 403 100% .

C3orf15 2451 100% .

C3orf17 1744 100%C3orf17 1744 100% .

C3orf18 583 94% .

C3orf19 1453 100% .

C3orf20 2775 100% .

C3orf22 438 100% .

C3orf23 1583 100% .

C3orf24 1 0% .

C3orf25 1876 100% .

C3orf26 898 98% .

C3orf27 454 100% .

C3orf30 1623 100% .

C3orf32 1131 93% .

C3orf33 787 100% .

C3orf35 711 100% .





C3orf36 502 100% .

C3orf37 1089 100% .

C3orf38 1002 100% .

C3orf39 1747 100% .

C3orf43 713 100% .

C3orf45 511 100% .

C3orf52 1030 80% .

C3orf55 566 64% .

C3orf58 1339 95% .

C3orf62 816 100% .

C3orf64 1380 100% .

C3orf67 1953 100% .

C3orf70 761 98% .

C3orf71 877 87% .

C3orf72 548 84% .

C3orf75 949 100% .

C3orf77 5159 99% .

C3orf78 255 100% .

C3orf79 315 100%C3orf79 315 100% .

C3orf80 541 95% .

C4A 11092 18% .

C4B 11085 18% .

C4BPA 1838 100% .

C4BPB 783 100% .

C4orf17 1117 100% .

C4orf19 953 100% .

C4orf21 6485 100% .

C4orf22 785 100% .

C4orf26 543 91% .

C4orf27 1073 98% .

C4orf29 1287 100% .

C4orf3 612 100% .





C4orf32 407 63% .

C4orf33 624 100% .

C4orf34 325 100% .

C4orf36 366 100% .

C4orf37 1424 100% .

C4orf39 478 93% .

C4orf40 676 100% .

C4orf43 644 100% .

C4orf44 849 63% .

C4orf45 581 100% .

C4orf46 350 100% .

C4orf47 958 53% .

C4orf48 436 17% .

C4orf49 821 100% .

C4orf51 633 100% .

C4orf52 216 100% .

C4orf6 311 100% .

C5 5195 100% .

C5AR1 1061 100%C5AR1 1061 100% .

C5orf15 810 100% .

C5orf20 739 100% .

C5orf22 1365 100% .

C5orf24 571 100% .

C5orf25 1503 91% .

C5orf28 656 100% .

C5orf30 625 100% .

C5orf32 302 100% .

C5orf34 1965 100% .

C5orf35 925 100% .

C5orf38 772 83% .

C5orf39 586 100% .

C5orf4 1312 93% .





C5orf41 1990 100% .

C5orf42 9902 100% .

C5orf43 229 100% .

C5orf44 1398 99% .

C5orf45 1106 89% .

C5orf46 280 100% .

C5orf47 547 60% .

C5orf48 417 100% .

C5orf49 456 81% .

C5orf51 909 100% .

C5orf52 492 100% .

C5orf54 1789 99% .

C5orf55 364 100% .

C5orf58 321 100% .

C5orf60 1229 71% .

C5orf62 1 0% .

C5orf63 4 0% .

C5orf64 405 90% .

C5orf65 1369 0%C5orf65 1369 0% .

C6 2873 100% .

C6orf1 492 98% .

C6orf10 1718 94% .

C6orf103 5176 94% .

C6orf105 780 92% .

C6orf106 917 100% .

C6orf108 822 54% .

C6orf115 397 100% .

C6orf118 1446 99% .

C6orf120 603 100% .

C6orf125 397 100% .

C6orf126 395 78% .

C6orf127 378 100% .





C6orf130 562 100% .

C6orf132 3587 17% .

C6orf136 1463 72% .

C6orf138 2586 100% .

C6orf141 1 0% .

C6orf146 1585 100% .

C6orf15 996 95% .

C6orf162 302 100% .

C6orf163 1010 100% .

C6orf165 1917 100% .

C6orf168 1254 100% .

C6orf170 3902 100% .

C6orf174 2868 94% .

C6orf186 1121 73% .

C6orf191 407 100% .

C6orf192 1427 97% .

C6orf195 388 100% .

C6orf201 439 100% .

C6orf203 736 100%C6orf203 736 100% .

C6orf211 1346 100% .

C6orf221 666 100% .

C6orf222 2003 100% .

C6orf223 788 94% .

C6orf225 251 100% .

C6orf226 310 100% .

C6orf228 2 0% .

C6orf25 865 94% .

C6orf47 895 99% .

C6orf48 337 98% .

C6orf52 475 100% .

C6orf57 339 85% .

C6orf58 1017 100% .





C6orf62 710 100% .

C6orf7 4 0% .

C6orf70 2109 100% .

C6orf72 1025 92% .

C6orf89 1228 100% .

C6orf94 697 95% .

C6orf97 2213 97% .

C6orf99 401 100% .

C7 2604 100% .

C7orf10 1476 99% .

C7orf11 548 65% .

C7orf23 499 100% .

C7orf25 1448 89% .

C7orf26 1374 99% .

C7orf29 715 100% .

C7orf30 721 99% .

C7orf31 1809 100% .

C7orf33 546 100% .

C7orf34 452 100%C7orf34 452 100% .

C7orf41 408 100% .

C7orf42 969 100% .

C7orf43 2038 80% .

C7orf44 628 100% .

C7orf45 747 100% .

C7orf46 925 93% .

C7orf49 527 100% .

C7orf50 601 99% .

C7orf53 408 100% .

C7orf55 350 100% .

C7orf57 936 100% .

C7orf58 3215 100% .

C7orf59 528 99% .





C7orf60 1238 100% .

C7orf61 1066 86% .

C7orf62 766 100% .

C7orf63 2922 100% .

C7orf65 468 100% .

C7orf66 356 100% .

C7orf69 381 71% .

C7orf70 784 100% .

C7orf71 522 95% .

C7orf72 1353 100% .

C7orf73 156 0% .

C8A 1799 100% .

C8B 1824 100% .

C8G 637 99% .

C8orf22 262 100% .

C8orf31 415 100% .

C8orf33 749 100% .

C8orf34 1473 100% .

C8orf37 648 100%C8orf37 648 100% .

C8orf38 1052 87% .

C8orf4 325 100% .

C8orf40 336 100% .

C8orf42 673 79% .

C8orf44 488 100% .

C8orf44‐SGK3 1555 100% .

C8orf45 2162 100% .

C8orf46 648 95% .

C8orf47 1137 95% .

C8orf48 964 100% .

C8orf55 635 30% .

C8orf58 1233 96% .

C8orf59 309 100% .





C8orf73 2216 70% .

C8orf74 901 100% .

C8orf76 1195 100% .

C8orf80 2535 100% .

C8orf82 663 26% .

C8orf83 273 100% .

C8orf84 815 100% .

C8orf85 476 91% .

C8orf86 684 100% .

C8ORFK29 728 69% .

C9 1724 100% .

C9orf100 1148 91% .

C9orf102 2199 99% .

C9orf103 584 91% .

C9orf106 1 0% .

C9orf11 925 100% .

C9orf114 1219 99% .

C9orf116 423 100% .

C9orf117 1599 96%C9orf117 1599 96% .

C9orf123 347 100% .

C9orf125 1216 100% .

C9orf128 1233 100% .

C9orf129 607 86% .

C9orf131 3264 100% .

C9orf135 714 100% .

C9orf139 581 100% .

C9orf140 1209 49% .

C9orf142 643 73% .

C9orf150 695 100% .

C9orf152 728 100% .

C9orf153 318 100% .

C9orf156 1462 98% .





C9orf16 260 68% .

C9orf163 616 93% .

C9orf167 1276 67% .

C9orf169 447 100% .

C9orf170 374 100% .

C9orf171 991 100% .

C9orf172 2935 66% .

C9orf173 1185 100% .

C9orf174 5342 98% .

C9orf21 727 65% .

C9orf23 496 100% .

C9orf24 1217 88% .

C9orf25 726 100% .

C9orf3 2604 98% .

C9orf30 902 100% .

C9orf30‐TMEFF1 1405 100% .

C9orf37 535 89% .

C9orf4 1055 64% .

C9orf40 593 73%C9orf40 593 73% .

C9orf41 1298 98% .

C9orf43 1486 100% .

C9orf46 460 100% .

C9orf47 773 69% .

C9orf5 2809 86% .

C9orf50 1324 69% .

C9orf57 506 100% .

C9orf64 1042 100% .

C9orf66 892 93% .

C9orf68 1041 100% .

C9orf69 1 0% .

C9orf7 540 79% .

C9orf71 521 100% .





C9orf72 1490 100% .

C9orf78 906 100% .

C9orf79 4354 100% .

C9orf80 365 100% .

C9orf82 1110 99% .

C9orf84 4645 100% .

C9orf85 490 100% .

C9orf86 3203 82% .

C9orf89 576 87% .

C9orf9 697 100% .

C9orf91 1107 100% .

C9orf93 4093 100% .

C9orf95 636 100% .

C9orf96 2188 99% .

CA1 814 100% .

CA10 1023 100% .

CA11 1023 98% .

CA12 1109 100% .

CA13 817 100%CA13 817 100% .

CA14 1058 100% .

CA2 811 96% Osteopetrosis with Renal Tubular Acidosis

CA3 811 95% .

CA4 971 100% CA4‐Related Retinitis Pigmentosa

CA4 971 100% Retinitis Pigmentosa, Autosomal Dominant

CA5A 946 100% .

CA5B 982 99% .

CA6 971 100% .

CA7 823 95% .

CA8 905 100% .

CA9 1424 100% .

CAB39 1058 100% .

CAB39L 1051 100% .





CABIN1 6807 98% .

CABLES1 1996 74% .

CABLES2 1477 76% .

CABP1 1652 60% .

CABP2 691 73% .

CABP4 903 97% CABP4‐Related Autosomal Recessive Congenital Stationary Night Blindness

CABP4 903 97% Congenital Stationary Night Blindness, Type 2B

CABP5 546 100% .

CABP7 668 99% .

CABS1 1192 100% .

CABYR 2101 100% .

CACHD1 3933 99% .

CACNA1A 7814 91% CACNA1A‐Related Episodic Ataxia Type 2

CACNA1A 7814 91% Episodic Ataxia Type 2

CACNA1A 7814 91% Familial Hemiplegic Migraine

CACNA1A 7814 91% Familial Hemiplegic Migraine 1

CACNA1A 7814 91% Spinocerebellar Ataxia Type 6

CACNA1B 7203 91% .

CACNA1C 7314 100% Brugada Syndrome 3CACNA1C 7314 100% Brugada Syndrome 3

CACNA1C 7314 100% Timothy Syndrome

CACNA1D 6850 99% .

CACNA1E 7136 100% .

CACNA1F 6301 94% CACNA1F‐Related X‐Linked Congenital Stationary Night Blindness

CACNA1F 6301 94% Congenital Stationary Night Blindness, X‐Linked

CACNA1F 6301 94% X‐linked Cone‐Rod Dystrophy 3

CACNA1G 7614 97% .

CACNA1H 7199 93% .

CACNA1I 6868 86% .

CACNA1S 5798 100% CACNA1S‐Related Malignant Hyperthermia Susceptibility

CACNA1S 5798 100% Hypokalemic Periodic Paralysis

CACNA1S 5798 100% Hypokalemic Periodic Paralysis Type 1

CACNA1S 5798 100% Malignant Hyperthermia Susceptibility





CACNA2D1 3441 100% .

CACNA2D2 3621 92% .

CACNA2D3 3439 96% .

CACNA2D4 3620 98% Retinal Cone Dystrophy 4

CACNB1 2117 95% .

CACNB2 2349 96% .

CACNB3 1509 100% .

CACNB4 1729 98% CACNB4‐Related Episodic Ataxia Type 2

CACNB4 1729 98% CACNB4‐Related Juvenile Myoclonic Epilepsy

CACNB4 1729 98% Episodic Ataxia Type 5

CACNB4 1729 98% Juvenile Myoclonic Epilepsy

CACNG1 685 100% .

CACNG2 988 100% .

CACNG3 964 100% .

CACNG4 1000 99% .

CACNG5 1165 100% .

CACNG6 799 81% .

CACNG7 875 100% .

CACNG8 1294 65%CACNG8 1294 65% .

CACYBP 711 100% .

CAD 6967 100% .

CADM1 1370 91% .

CADM2 1419 100% .

CADM3 1339 94% .

CADM4 1203 94% .

CADPS 4255 95% .

CADPS2 4052 95% .

CAGE1 2701 96% .

CALB1 830 100% .

CALB2 860 100% .

CALCA 602 100% .

CALCB 396 100% .





CALCOCO1 2132 100% .

CALCOCO2 1432 100% .

CALCR 1526 100% .

CALCRL 1434 100% .

CALD1 2491 99% .

CALHM1 1049 100% .

CALHM2 1082 100% .

CALHM3 1047 98% .

CALM1 474 99% .

CALM2 542 100% .

CALM3 474 99% .

CALML3 454 100% .

CALML4 611 100% .

CALML5 445 100% .

CALML6 570 95% .

CALN1 814 100% .

CALR 1290 100% .

CALR3 1191 100% .

CALU 1198 99%CALU 1198 99% .

CALY 901 74% .

CAMK1 1527 100% .

CAMK1D 1237 100% .

CAMK1G 1475 100% .

CAMK2A 1546 99% .

CAMK2B 2132 91% .

CAMK2D 1667 96% .

CAMK2G 1855 89% .

CAMK2N1 245 75% .

CAMK2N2 248 97% .

CAMK4 1466 100% .

CAMKK1 1743 99% .

CAMKK2 1841 98% .





CAMKMT 1016 89% .

CAMKV 1551 100% .

CAMLG 907 100% .

CAMP 529 100% .

CAMSAP1 4877 97% .

CAMSAP2 4516 100% .

CAMSAP3 3907 78% .

CAMTA1 5147 99% .

CAMTA2 3869 99% .

CAND1 3753 100% .

CAND2 3771 96% .

CANT1 1218 100% Desbuquois Dysplasia

CANX 1839 100% .

CAP1 1476 100% .

CAP2 1492 100% .

CAPG 1083 100% .

CAPN1 2229 99% .

CAPN10 2067 93% .

CAPN11 2312 100%CAPN11 2312 100% .

CAPN12 2244 86% .

CAPN13 2124 100% .

CAPN14 2139 98% .

CAPN2 2194 96% .

CAPN3 2578 99% Calpainopathy

CAPN3 2578 99% Limb‐Girdle Muscular Dystrophies, Autosomal Recessive

CAPN5 2006 100% .

CAPN6 1974 100% .

CAPN7 2526 97% .

CAPN8 1865 99% .

CAPN9 2153 100% .

CAPNS1 847 96% .

CAPNS2 1 0% .





CAPRIN1 2222 100% .

CAPRIN2 3504 100% .

CAPS 608 100% .

CAPS2 1755 100% .

CAPSL 661 100% .

CAPZA1 901 100% .

CAPZA2 936 95% .

CAPZA3 904 100% .

CAPZB 962 99% .

CARD10 3179 94% .

CARD11 3561 97% .

CARD14 3260 93% .

CARD16 630 100% .

CARD17 345 100% .

CARD18 2 0% .

CARD6 3126 100% .

CARD8 1848 100% .

CARD9 1702 92% .

CARHSP1 456 100%CARHSP1 456 100% .

CARKD 1326 85% .

CARM1 1891 86% .

CARNS1 2962 65% .

CARS 2643 100% .

CARS2 1902 94% .

CARTPT 363 100% .

CASC1 2422 100% .

CASC3 2164 99% .

CASC4 1413 100% .

CASC5 7133 98% .

CASD1 2470 94% .

CASK 2925 100% CASK‐Related X‐linked Mental Retardation

CASKIN1 4376 75% .





CASKIN2 3685 98% .

CASP1 1251 100% .

CASP10 1760 100% Autoimmune Lymphoproliferative Syndrome

CASP10 1760 100% CASP10‐Related Autoimmune Lymphoproliferative Syndrome

CASP12 1054 100% .

CASP14 753 100% .

CASP2 1475 100% .

CASP3 873 100% .

CASP4 1326 100% .

CASP5 1381 100% .

CASP6 911 99% .

CASP7 1376 79% .

CASP8 1768 100% Caspase 8 Deficiency

CASP8AP2 5940 100% .

CASP9 1500 87% .

CASQ1 1242 100% .

CASQ2 1244 100% CASQ2‐Related Catecholaminergic Polymorphic Ventricular Tachycardia

CASQ2 1244 100% Catecholaminergic Polymorphic Ventricular Tachycardia

CASR 3291 100% Autosomal Dominant HypocalcemiaCASR 3291 100% Autosomal Dominant Hypocalcemia

CASR 3291 100% CASR‐Associated Familial Isolated Hypoparathyroidism

CASR 3291 100% CASR‐Related Disorders

CASR 3291 100% CASR‐Related Familial Isolated Hypoparathyroidism

CASR 3291 100% Familial Hypocalciuric Hypercalcemia, Type I

CASR 3291 100% Familial Isolated Hypoparathyroidism

CASR 3291 100% Neonatal Severe Primary Hyperparathyroidism

CASS4 2385 100% .

CAST 2534 97% .

CASZ1 5356 95% .

CAT 1636 98% .

CATSPER1 2391 100% CATSPER‐Related Male Infertility

CATSPER1 2391 100% CATSPER‐Related Nonsyndromic Male Infertility

CATSPER2 1646 100% CATSPER‐Related Male Infertility





CATSPER2 1646 100% Deafness‐Infertility Syndrome

CATSPER3 1229 100% .

CATSPER4 1459 100% .

CATSPERB 3455 100% .

CATSPERG 3847 97% .

CAV1 780 99% .

CAV2 543 100% .

CAV3 464 100% CAV3‐Related Distal Myopathy

CAV3 464 100% CAV3‐Related Hypertrophic Cardiomyopathy

CAV3 464 100% CAV3‐Related Isolated HyperCKemia

CAV3 464 100% CAV3‐Related Rippling Muscle Disease

CAV3 464 100% CAV3‐Related Sudden Infant Death Syndrome

CAV3 464 100% Caveolinopathies

CAV3 464 100% Limb‐Girdle Muscular Dystrophies, Autosomal Dominant

CAV3 464 100% Limb‐Girdle Muscular Dystrophy Type 1C

CAV3 464 100% Long QT Syndrome 9

CBFA2T2 1897 98% .

CBFA2T3 2010 83% .

CBFB 619 99%CBFB 619 99% .

CBL 2785 96% .

CBLB 3057 100% .

CBLC 1465 96% .

CBLL1 1500 99% .

CBLN1 594 100% .

CBLN2 687 97% .

CBLN3 630 90% .

CBLN4 618 100% .

CBR1 1118 100% .

CBR3 846 100% .

CBR4 739 100% .

CBS 1716 94% Homocystinuria Caused by Cystathionine Beta‐Synthase Deficiency

CBWD1 1393 95% .





CBWD2 1248 96% .

CBWD3 2558 39% .

CBWD5 1100 31% .

CBWD6 1381 56% .

CBX1 586 100% .

CBX2 1967 99% .

CBX3 572 100% .

CBX4 1703 97% .

CBX5 592 100% .

CBX6 1259 98% .

CBX7 780 85% .

CBX8 1190 100% .

CBY1 397 100% .

CBY3 737 61% .

CC2D1A 2972 98% .

CC2D1B 2669 100% .

CC2D2A 5235 94% CC2D2A‐Related Joubert Syndrome

CC2D2A 5235 94% CC2D2A‐Related Meckel Syndrome

CC2D2A 5235 94% Joubert SyndromeCC2D2A 5235 94% Joubert Syndrome

CC2D2A 5235 94% Meckel Syndrome

CC2D2B 1248 100% .

CCAR1 3549 100% .

CCBE1 1265 89% Hennekam Lymphangiectasia‐Lymphedema Syndrome

CCBL1 1320 100% .

CCBL2 1417 100% .

CCBP2 1159 100% .

CCDC101 918 100% .

CCDC102A 1685 81% .

CCDC102B 1570 100% .

CCDC103 741 100% .

CCDC104 1204 100% .

CCDC105 1528 81% .





CCDC106 863 100% .

CCDC107 917 81% .

CCDC108 6290 97% .

CCDC109B 1043 90% .

CCDC11 1577 100% .

CCDC110 2739 94% .

CCDC111 1731 100% .

CCDC112 1630 98% .

CCDC113 1170 99% .

CCDC114 2132 100% .

CCDC115 563 100% .

CCDC116 2056 91% .

CCDC117 864 78% .

CCDC12 568 100% .

CCDC120 2086 73% .

CCDC121 1337 90% .

CCDC122 842 100% .

CCDC124 688 64% .

CCDC125 1580 100%CCDC125 1580 100% .

CCDC126 431 100% .

CCDC127 791 99% .

CCDC129 3205 98% .

CCDC13 2214 96% .

CCDC130 1227 100% .

CCDC132 3083 100% .

CCDC134 714 100% .

CCDC135 2693 100% .

CCDC136 3690 96% .

CCDC137 894 88% .

CCDC138 2058 100% .

CCDC14 2787 100% .

CCDC140 496 100% .





CCDC141 4792 100% .

CCDC142 2289 100% .

CCDC144A 4552 95% .

CCDC144NL 682 100% .

CCDC146 2944 100% .

CCDC147 2691 100% .

CCDC148 1837 100% .

CCDC149 1716 92% .

CCDC15 2916 100% .

CCDC150 3460 100% .

CCDC151 1840 99% .

CCDC152 797 100% .

CCDC153 657 60% .

CCDC154 2099 65% .

CCDC155 1767 99% .

CCDC157 2303 94% .

CCDC158 3434 100% .

CCDC159 1059 78% .

CCDC160 982 100%CCDC160 982 100% .

CCDC164 2291 100% .

CCDC165 4844 100% .

CCDC166 2 0% .

CCDC167 426 100% .

CCDC168 7366 21% .

CCDC169 895 100% .

CCDC169‐SOHLH2 1812 100% .

CCDC17 1921 99% .

CCDC18 4056 100% .

CCDC19 1704 100% .

CCDC22 1952 88% .

CCDC23 209 100% .

CCDC24 956 89% .





CCDC25 691 95% .

CCDC27 2019 95% .

CCDC28A 849 100% .

CCDC28B 801 100% .

CCDC3 825 82% .

CCDC30 2412 99% .

CCDC33 2607 99% .

CCDC34 1237 100% .

CCDC36 1942 100% .

CCDC37 1903 99% .

CCDC38 1752 100% .

CCDC39 2908 100% Primary Ciliary Dyskinesia14: CCDC39‐Related Primary Ciliary Dyskinesia

CCDC40 3799 97% .

CCDC41 2166 100% .

CCDC42 979 100% .

CCDC42B 955 43% .

CCDC43 695 100% .

CCDC47 1572 100% .

CCDC48 1833 29%CCDC48 1833 29% .

CCDC50 1497 100% DFNA44 Nonsyndromic Hearing Loss and Deafness

CCDC50 1497 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

CCDC51 1248 100% .

CCDC53 613 100% .

CCDC54 991 100% .

CCDC56 329 100% .

CCDC57 3027 100% .

CCDC58 455 100% .

CCDC59 742 100% .

CCDC6 1794 100% .

CCDC60 1709 100% .

CCDC61 1656 88% .

CCDC62 2103 98% .





CCDC63 1736 100% .

CCDC64 1758 79% .

CCDC64B 1563 86% .

CCDC65 1487 100% .

CCDC66 2919 100% .

CCDC67 1867 100% .

CCDC68 1048 100% .

CCDC69 1313 100% .

CCDC7 1594 100% .

CCDC70 706 100% .

CCDC71 1408 100% .

CCDC71L 1 0% .

CCDC72 211 100% .

CCDC73 3356 99% .

CCDC74A 1534 92% .

CCDC74B 2200 96% .

CCDC75 824 100% .

CCDC76 1517 100% .

CCDC77 1511 100%CCDC77 1511 100% .

CCDC78 1548 99% .

CCDC79 2252 73% .

CCDC8 1621 100% .

CCDC80 3069 100% .

CCDC81 2019 87% .

CCDC82 1707 100% .

CCDC83 1379 100% .

CCDC84 1043 94% .

CCDC85A 1686 97% .

CCDC85B 613 51% .

CCDC85C 1284 37% .

CCDC86 1099 100% .

CCDC87 2554 100% .





CCDC88A 6280 100% .

CCDC88B 4995 82% .

CCDC88C 6207 99% .

CCDC89 1129 100% .

CCDC9 1640 97% .

CCDC90A 1116 63% .

CCDC90B 801 100% .

CCDC91 1374 100% .

CCDC92 1012 100% .

CCDC93 1992 100% .

CCDC94 1004 99% .

CCDC96 1672 97% .

CCDC97 1052 97% .

CCDC99 2061 98% .

CCHCR1 2889 97% .

CCIN 1771 100% .

CCK 356 100% .

CCKAR 1307 100% .

CCKBR 1364 100%CCKBR 1364 100% .

CCL1 303 100% .

CCL11 306 100% .

CCL13 309 100% .

CCL14 346 85% .

CCL15 358 100% .

CCL16 375 100% .

CCL17 297 100% .

CCL18 282 100% .

CCL19 352 100% .

CCL2 312 100% .

CCL20 307 100% .

CCL21 425 100% .

CCL22 294 100% .





CCL23 430 100% .

CCL24 372 100% .

CCL25 473 86% .

CCL26 297 100% .

CCL27 351 100% .

CCL28 396 100% .

CCL3 291 100% .

CCL3L1 588 31% .

CCL3L3 588 31% .

CCL4 291 100% .

CCL4L1 582 50% .

CCL4L2 582 50% .

CCL5 288 100% .

CCL7 395 100% .

CCL8 342 100% .

CCM2 1475 98% Familial Cerebral Cavernous Malformation

CCM2 1475 98% Familial Cerebral Cavernous Malformation 2

CCNA1 1434 100% .

CCNA2 1331 100%CCNA2 1331 100% .

CCNB1 1515 100% .

CCNB1IP1 846 100% .

CCNB2 1233 98% .

CCNB3 4232 100% .

CCNC 986 100% .

CCND1 908 100% .

CCND2 890 100% .

CCND3 1003 99% .

CCNDBP1 1127 98% .

CCNE1 1277 98% .

CCNE2 1283 100% .

CCNF 2429 99% .

CCNG1 908 100% .





CCNG2 1067 100% .

CCNH 1065 100% .

CCNI 1158 100% .

CCNI2 1134 65% .

CCNJ 1172 100% .

CCNJL 1332 89% .

CCNK 1846 92% .

CCNL1 1651 93% .

CCNL2 1664 100% .

CCNO 1080 86% .

CCNT1 2217 100% .

CCNT2 2292 100% .

CCNY 1066 99% .

CCNYL1 1120 93% .

CCP110 3118 100% .

CCPG1 2518 92% .

CCR1 1072 100% .

CCR10 1097 95% .

CCR2 1275 100%CCR2 1275 100% .

CCR3 1074 100% .

CCR4 1087 100% .

CCR5 1063 100% .

CCR6 1133 100% .

CCR7 1149 100% .

CCR8 1072 100% .

CCR9 1118 100% .

CCRL1 1057 100% .

CCRL2 1079 100% .

CCRN4L 1352 86% .

CCS 857 96% .

CCT2 1672 100% .

CCT3 1694 100% .





CCT4 1676 100% .

CCT5 1768 100% Autosomal Recessive Sensory Neuropathy with Spastic Paraplegia

CCT6A 1652 92% .

CCT6B 1649 100% .

CCT7 1680 100% .

CCT8 1711 100% .

CCT8L2 1678 100% .

CCZ1 1509 80% .

CCZ1B 1509 78% .

CD101 3102 100% .

CD109 4470 98% .

CD14 1136 100% .

CD151 922 98% .

CD160 729 100% .

CD163 3773 100% .

CD163L1 4468 100% .

CD164 669 86% .

CD164L2 730 87% .

CD177 1186 92%CD177 1186 92% .

CD180 1998 100% .

CD19 1727 99% Common Variable Immune Deficiency

CD1A 1008 100% .

CD1B 1283 100% .

CD1C 1156 100% .

CD1D 1032 96% .

CD1E 1316 100% .

CD2 1096 100% .

CD200 948 98% .

CD200R1 1126 100% .

CD200R1L 840 100% .

CD207 1012 100% .

CD209 1301 100% .





CD22 2596 100% .

CD226 1035 100% .

CD24 1 0% .

CD244 1149 100% .

CD247 527 100% .

CD248 2278 98% .

CD27 807 100% .

CD274 897 100% .

CD276 1641 100% .

CD28 685 100% .

CD2AP 1992 100% Focal Segmental Glomerulosclerosis

CD2AP 1992 100% Focal Segmental Glomerulosclerosis 3

CD2BP2 1050 100% .

CD300A 928 98% .

CD300C 691 100% .

CD300E 757 100% .

CD300LB 733 100% .

CD300LD 1293 100% .

CD300LF 946 100%CD300LF 946 100% .

CD300LG 1146 96% .

CD302 723 90% .

CD320 1135 91% .

CD33 1220 100% .

CD34 1209 93% .

CD36 1467 100% Platelet Glycoprotein IV Deficiency

CD37 878 100% .

CD38 935 100% .

CD3D 536 100% Severe Combined Immune Deficiency, Autosomal Recessive, TCell ‐Negative, B Cell‐Positive, NK Cell‐Positive, CD3D‐Related

CD3E 656 100% Severe Combined Immune Deficiency, Autosomal Recessive, TCell ‐Negative, B Cell‐Positive, NK Cell‐Positive, CD3E‐Related

CD3EAP 1551 98% .

CD3G 573 95% Immunodeficiency due to Defect in CD3‐Gamma

CD4 1483 100% .





CD40 1492 100% Immunodeficiency with Hyper‐IgM, Type 3

CD40LG 806 100% X‐Linked Hyper IgM Syndrome

CD44 2309 98% .

CD46 1312 100% Atypical Hemolytic‐Uremic Syndrome

CD46 1312 100% CD46‐Related Atypical Hemolytic‐Uremic Syndrome

CD47 1020 95% .

CD48 873 100% .

CD5 1528 98% .

CD52 194 100% .

CD53 688 100% .

CD55 1503 76% .

CD58 798 95% .

CD59 399 100% .

CD5L 1068 100% .

CD6 2059 82% .

CD63 745 100% .

CD68 1089 100% .

CD69 641 100% .

CD7 739 88%CD7 739 88% .

CD70 594 100% .

CD72 1221 88% .

CD74 927 100% .

CD79A 701 93% .

CD79B 717 100% .

CD80 887 100% .

CD81 743 97% .

CD82 836 100% .

CD83 638 100% .

CD84 1221 100% .

CD86 1018 100% .

CD8A 855 69% .

CD8B 931 93% .





CD9 928 98% .

CD93 1967 99% .

CD96 2011 100% .

CD97 2590 97% .

CD99 822 95% .

CD99L2 1046 91% .

CDA 457 100% .

CDADC1 1586 95% .

CDAN1 3895 95% Congenital Dyserythropoietic Anemia Type I

CDC123 1266 100% .

CDC14A 1981 100% .

CDC14B 1649 96% .

CDC16 2034 98% .

CDC20 1540 100% .

CDC20B 1608 100% .

CDC23 1942 100% .

CDC25A 1640 90% .

CDC25B 1908 94% .

CDC25C 1533 100%CDC25C 1533 100% .

CDC26 266 100% .

CDC27 2569 100% .

CDC34 731 94% .

CDC37 1169 100% .

CDC37L1 1042 100% .

CDC40 1869 100% .

CDC42 690 100% .

CDC42BPA 5381 100% .

CDC42BPB 5284 95% .

CDC42BPG 4804 91% .

CDC42EP1 1184 100% .

CDC42EP2 637 100% .

CDC42EP3 769 100% .





CDC42EP4 1075 100% .

CDC42EP5 451 46% .

CDC42SE1 252 100% .

CDC42SE2 267 100% .

CDC45 1946 96% .

CDC5L 2476 99% .

CDC6 1727 100% Meier‐Gorlin Syndrome 5

CDC7 1769 100% .

CDC73 1664 100% CDC73‐Related Disorders

CDC73 1664 100% CDC73‐Related Familial Isolated Hyperparathyroidism

CDC73 1664 100% CDC73‐Related Parathyroid Carcinoma

CDC73 1664 100% Hyperparathyroidism‐Jaw Tumor Syndrome

CDCA2 3142 100% .

CDCA3 827 100% .

CDCA4 730 100% .

CDCA5 944 100% .

CDCA7 1393 98% .

CDCA7L 1437 100% .

CDCA8 883 100%CDCA8 883 100% .

CDCP1 2555 100% .

CDCP2 1366 100% .

CDH1 2781 99% Hereditary Diffuse Gastric Cancer

CDH10 2411 100% .

CDH11 2435 100% .

CDH12 2429 100% .

CDH13 2247 96% .

CDH15 2501 89% .

CDH16 2558 99% .

CDH17 2567 100% .

CDH18 2560 100% .

CDH19 2363 100% .

CDH2 2785 98% .





CDH20 2450 100% .

CDH22 2531 87% .

CDH23 10646 100% DFNB12 Nonsyndromic Hearing Loss and Deafness

CDH23 10646 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

CDH23 10646 100% Usher Syndrome Type 1

CDH23 10646 100% Usher Syndrome Type 1D

CDH24 2508 90% .

CDH26 2593 100% .

CDH3 2554 95% EEM Syndrome

CDH4 2816 98% .

CDH5 2399 100% .

CDH6 2527 100% .

CDH7 2402 100% .

CDH8 2553 100% .

CDH9 2414 100% .

CDHR1 2850 95% .

CDHR2 4057 100% .

CDHR3 2734 100% .

CDHR4 2578 25%CDHR4 2578 25% .

CDHR5 2598 99% .

CDIPT 840 99% .

CDK1 926 100% .

CDK10 1186 99% .

CDK11A 2485 67% .

CDK11B 2498 70% .

CDK12 4551 100% .

CDK13 4595 81% .

CDK14 1412 100% .

CDK15 1238 100% .

CDK16 1847 99% .

CDK17 1636 97% .

CDK18 1756 94% .





CDK19 1568 100% .

CDK2 925 100% .

CDK20 1491 95% .

CDK2AP1 364 84% .

CDK2AP2 397 63% .

CDK3 946 100% .

CDK4 940 100% CDK4‐Related Cutaneous Malignant Melanoma

CDK4 940 100% Cutaneous Malignant Melanoma

CDK5 928 100% .

CDK5R1 928 100% .

CDK5R2 1108 79% .

CDK5RAP1 1816 100% .

CDK5RAP2 5918 100% Primary Autosomal Recessive Microcephaly

CDK5RAP2 5918 100% Primary Autosomal Recessive Microcephaly Type 3

CDK5RAP3 1577 99% .

CDK6 1009 99% .

CDK7 1089 99% .

CDK8 1447 100% .

CDK9 1498 87%CDK9 1498 87% .

CDKAL1 1796 100% .

CDKL1 1166 100% .

CDKL2 1522 100% .

CDKL3 1831 100% .

CDKL4 980 100% .

CDKL5 3173 100% CDKL5‐Related X‐Linked Infantile Spasm Syndrome

CDKL5 3173 100% Epileptic Encephalopathy, Early Infantile, 2

CDKN1A 508 100% .

CDKN1B 605 100% Multiple Endocrine Neoplasia Type 4

CDKN1C 964 31% Beckwith‐Wiedemann Syndrome

CDKN2A 1055 95% CDKN2A‐Related Cutaneous Malignant Melanoma

CDKN2A 1055 95% Cutaneous Malignant Melanoma

CDKN2AIP 1760 99% .





CDKN2AIPNL 363 100% .

CDKN2B 506 100% .

CDKN2C 515 100% .

CDKN2D 509 86% .

CDKN3 685 98% .

CDNF 580 100% .

CDO1 623 100% .

CDON 3940 100% .

CDR1 793 100% .

CDR2 1385 100% .

CDR2L 1626 60% .

CDRT1 2393 100% .

CDRT15 579 100% .

CDRT15L2 854 100% .

CDRT4 467 100% .

CDS1 1438 97% .

CDS2 1390 96% .

CDSN 1608 95% .

CDT1 1681 95% Meier Gorlin Syndrome 4CDT1 1681 95% Meier‐Gorlin Syndrome 4

CDV3 817 72% .

CDX1 835 51% .

CDX2 954 87% .

CDX4 867 100% .

CDY1 3408 0% .

CDY1B 3408 0% .

CDY2A 3260 0% .

CDY2B 3260 0% .

CDYL 1663 98% .

CDYL2 1549 100% .

CEACAM1 1730 94% .

CEACAM16 1302 98% .

CEACAM18 1217 100% .





CEACAM19 935 98% .

CEACAM20 13 0% .

CEACAM21 989 100% .

CEACAM3 787 100% .

CEACAM4 865 100% .

CEACAM5 2145 100% .

CEACAM6 1055 100% .

CEACAM7 814 100% .

CEACAM8 1070 100% .

CEBPA 1081 50% Familial Acute Myeloid Leukemia (AML) with Mutated CEBPA

CEBPB 1042 53% .

CEBPD 814 79% .

CEBPE 854 100% .

CEBPG 457 100% .

CEBPZ 3229 100% .

CECR1 1863 97% .

CECR2 4430 100% .

CECR5 1344 94% .

CECR6 1815 63%CECR6 1815 63% .

CEL 2315 82% Maturity‐Onset Diabetes of the Young Type 8, with Exocrine Dysfunction

CELA1 809 95% .

CELA2A 842 100% .

CELA2B 842 100% .

CELA3A 849 99% .

CELA3B 845 100% .

CELF1 1597 95% .

CELF2 1687 100% .

CELF3 1523 87% .

CELF4 1509 96% .

CELF5 1506 99% .

CELF6 1494 74% .

CELSR1 9185 90% .





CELSR2 8908 100% .

CELSR3 10079 96% .

CEMP1 821 100% .

CEND1 454 100% .

CENPA 439 76% .

CENPB 1804 100% .

CENPBD1 568 64% .

CENPC1 2955 99% .

CENPE 8305 99% .

CENPF 9421 100% .

CENPH 780 97% .

CENPI 2355 100% .

CENPJ 4125 100% Primary Autosomal Recessive Microcephaly

CENPJ 4125 100% Primary Autosomal Recessive Microcephaly Type 6

CENPK 846 100% .

CENPL 1193 88% .

CENPM 781 100% .

CENPN 1277 100% .

CENPO 959 100%CENPO 959 100% .

CENPP 964 98% .

CENPQ 839 100% .

CENPT 1776 99% .

CENPV 839 72% .

CENPW 324 100% .

CEP104 2882 100% .

CEP112 3138 100% .

CEP120 3043 100% .

CEP128 3377 100% .

CEP135 3570 100% .

CEP152 5237 100% Primary Autosomal Recessive Microcephaly

CEP152 5237 100% Primary Autosomal Recessive Microcephaly Type 4

CEP164 4555 100% .





CEP170 5046 100% .

CEP19 512 100% .

CEP192 7794 78% .

CEP250 7529 98% .

CEP290 7652 100% Bardet‐Biedl Syndrome

CEP290 7652 100% CEP290‐Related Bardet‐Biedl Syndrome

CEP290 7652 100% CEP290‐Related Joubert Syndrome

CEP290 7652 100% CEP290‐Related Leber Congenital Amaurosis

CEP290 7652 100% CEP290‐Related Meckel Syndrome

CEP290 7652 100% Joubert Syndrome

CEP290 7652 100% Leber Congenital Amaurosis

CEP290 7652 100% Meckel Syndrome

CEP290 7652 100% Senior‐Loken Syndrome

CEP290 7652 100% Senior‐Loken Syndrome 6

CEP350 9533 100% .

CEP41 1166 100% .

CEP44 1331 91% .

CEP55 1469 100% .

CEP57 1548 100%CEP57 1548 100% .

CEP57L1 1423 100% .

CEP63 2271 95% .

CEP68 2294 100% .

CEP70 1876 100% .

CEP72 1992 96% .

CEP76 2028 100% .

CEP78 2233 100% .

CEP85 2341 99% .

CEP85L 2610 97% .

CEP89 2545 100% .

CEP95 2569 99% .

CEP97 2664 100% .

CEPT1 1283 100% .





CER1 812 100% .

CERCAM 1839 89% .

CERK 1666 89% .

CERKL 1735 100% CERKL‐Related Retinitis Pigmentosa

CERS1 1085 73% .

CERS2 1191 100% .

CERS3 1193 100% .

CERS4 1225 100% .

CERS5 1219 100% .

CERS6 1223 100% .

CES1 1763 77% .

CES2 1920 100% .

CES3 1900 100% .

CES4A 1743 91% .

CES5A 1782 100% .

CETN1 523 100% .

CETN2 539 99% .

CETN3 524 100% .

CETP 1546 100% CETP Related HyperalphalipoproteinemiaCETP 1546 100% CETP‐Related Hyperalphalipoproteinemia

CFB 2566 96% Atypical Hemolytic‐Uremic Syndrome

CFB 2566 96% CFB‐Related Atypical Hemolytic‐Uremic Syndrome

CFC1 1392 15% CFC1‐Related Conotruncal Heart Malformations

CFC1 1392 15% Heterotaxy Syndrome

CFC1 1392 15% Visceral Heterotaxy 2, Autosomal

CFC1B 1392 15% .

CFD 782 60% .

CFDP1 928 100% .

CFH 3820 100% Age‐Related Macular Degeneration

CFH 3820 100% Age‐Related Macular Degeneration 4

CFH 3820 100% Atypical Hemolytic‐Uremic Syndrome

CFH 3820 100% CFH‐Related Atypical Hemolytic‐Uremic Syndrome

CFH 3820 100% CFH‐Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II





CFH 3820 100% Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II

CFHR1 1017 93% Atypical Hemolytic‐Uremic Syndrome

CFHR1 1017 93% CFHR3 and CFHR1‐Related Atypical Hemolytic‐Uremic Syndrome

CFHR2 833 96% .


CFHR3 1017 91% CFHR3 and CFHR1‐Related Atypical Hemolytic‐Uremic Syndrome


CFHR5 1822 100% CFHR5‐Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II

CFHR5 1822 100% Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II

CFI 1808 100% Atypical Hemolytic‐Uremic Syndrome

CFI 1808 100% CFI‐Related Atypical Hemolytic‐Uremic Syndrome

CFL1 517 99% .

CFL2 524 99% CFL2‐Related Nemaline Myopathy

CFL2 524 99% Nemaline Myopathy

CFLAR 1645 100% .

CFP 1450 80% Properdin Deficiency, X‐Linked

CFTR 4581 100% CFTR‐Related Disorders

CFTR 4581 100% CFTR‐Related Hereditary Pancreatitis

CFTR 4581 100% Hereditary PancreatitisCFTR 4581 100% Hereditary Pancreatitis

CGA 364 100% .

CGB 519 54% .

CGB1 576 99% .

CGB2 504 86% .

CGB5 519 92% .

CGB7 519 91% .

CGB8 516 79% .

CGGBP1 508 100% .

CGN 3692 99% .

CGNL1 3981 100% .

CGREF1 1538 90% .

CGRRF1 1023 100% .

CH25H 823 99% .





CHAC1 807 100% .

CHAC2 567 100% .

CHAD 1092 100% .

CHADL 2389 47% .

CHAF1A 3034 98% .

CHAF1B 1732 100% .

CHAMP1 2443 100% .

CHAT 2351 88% CHAT‐Related Congenital Myasthenic Syndrome

CHAT 2351 88% Congenital Myasthenic Syndromes

CHCHD1 420 100% .

CHCHD10 466 81% .

CHCHD2 472 100% .

CHCHD3 731 91% .

CHCHD4 506 99% .

CHCHD5 521 98% .

CHCHD6 809 92% .

CHCHD7 349 100% .

CHCHD8 268 100% .

CHD1 5472 100%CHD1 5472 100% .

CHD1L 2790 97% .

CHD2 5710 100% .

CHD3 6612 94% .

CHD4 5975 100% .

CHD5 6075 98% .

CHD6 8335 100% .

CHD7 9186 100% CHARGE Syndrome

CHD7 9186 100% Kallmann Syndrome

CHD7 9186 100% Kallmann Syndrome 5

CHD8 7499 100% .

CHD9 8849 100% .

CHDH 1813 84% .

CHEK1 1499 100% .





CHEK2 1864 93% CHEK2‐Related Breast Cancer

CHEK2 1864 93% Li‐Fraumeni Syndrome, CHEK2‐Related

CHEK2 1864 93% Prostate Cancer

CHERP 2819 86% .

CHFR 2167 84% .

CHGA 1589 83% .

CHGB 2054 97% .

CHI3L1 1363 100% .

CHI3L2 1213 100% .

CHIA 1475 100% .

CHIC1 703 100% .

CHIC2 522 100% .

CHID1 1352 88% .

CHIT1 1449 100% Chitotriosidase Deficiency

CHKA 1422 90% .

CHKB 1392 94% .

CHL1 3779 100% .

CHM 2045 99% Choroideremia

CHML 1975 100%CHML 1975 100% .

CHMP1A 771 100% .

CHMP1B 1 0% .

CHMP2A 689 100% .

CHMP2B 666 100% CHMP2B‐Related Frontotemporal Dementia

CHMP3 693 100% .

CHMP4A 822 100% .

CHMP4B 695 100% .

CHMP4C 722 100% .

CHMP5 692 100% .

CHMP6 638 83% .

CHMP7 1402 94% .

CHN1 1606 99% Duane Retraction Syndrome 2

CHN1 1606 99% Duane Syndrome





CHN2 1631 100% .

CHODL 962 91% .

CHORDC1 1043 100% .

CHP 616 100% .

CHP2 619 100% .

CHPF 2353 93% .

CHPF2 2335 100% .

CHPT1 1292 97% .

CHRAC1 408 97% .

CHRD 3077 94% .

CHRDL1 1421 100% .

CHRDL2 1488 95% .

CHRFAM7A 1271 49% .

CHRM1 1387 100% .

CHRM2 1405 100% .

CHRM3 1777 100% .

CHRM4 1444 100% .

CHRM5 1603 100% .

CHRNA1 1521 100% CHRNA1 Related Congenital Myasthenic SyndromeCHRNA1 1521 100% CHRNA1‐Related Congenital Myasthenic Syndrome

CHRNA1 1521 100% CHRNA1‐Related Multiple Pterygium Syndrome, Lethal Type

CHRNA1 1521 100% Congenital Myasthenic Syndromes

CHRNA10 1373 88% .

CHRNA2 1614 98% CHRNA2‐Related Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant

CHRNA2 1614 98% Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant

CHRNA3 1708 95% .

CHRNA4 1908 91% CHRNA4‐Related Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant

CHRNA4 1908 91% Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant

CHRNA5 1431 92% .

CHRNA6 1521 100% .

CHRNA7 1722 63% .

CHRNA9 1460 100% .

CHRNB1 1550 100% CHRNB1‐Related Congenital Myasthenic Syndrome





CHRNB1 1550 100% Congenital Myasthenic Syndromes

CHRNB2 1533 86% CHRNB2‐Related Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant

CHRNB2 1533 86% Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant

CHRNB3 1401 100% .

CHRNB4 1699 100% .

CHRND 1602 100% CHRND‐Related Congenital Myasthenic Syndrome

CHRND 1602 100% CHRND‐Related Multiple Pterygium Syndrome, Lethal Type

CHRND 1602 100% Congenital Myasthenic Syndromes

CHRNE 1530 100% CHRNE‐Related Congenital Myasthenic Syndrome

CHRNE 1530 100% Congenital Myasthenic Syndromes

CHRNG 1602 100% CHRNG‐Related Disorders

CHST1 1240 100% .

CHST10 1123 100% .

CHST11 1071 100% .

CHST12 1249 100% .

CHST13 1038 87% .

CHST14 1135 84% Adducted Thumb‐Clubfoot Syndrome

CHST15 1888 99% .

CHST2 1597 84%CHST2 1597 84% .

CHST3 1448 79% CHST3‐Related Skeletal Dysplasia

CHST3 1448 79% Humerospinal Dysostosis

CHST3 1448 79% Larsen Syndrome, Autosomal Recessive

CHST3 1448 79% Spondyloepiphyseal Dysplasia, Omani Type

CHST4 1165 100% .

CHST5 1240 99% .

CHST6 1192 99% .

CHST7 1465 70% .

CHST8 1287 100% .

CHST9 1352 100% .

CHSY1 2421 92% .

CHSY3 2661 87% .

CHTF18 3641 82% .





CHTF8 1949 99% .

CHTOP 790 100% .

CHUK 2322 100% .

CHURC1 358 100% .

CHURC1‐FNTB 1475 100% .

CIAO1 1048 96% .

CIAPIN1 1027 100% .

CIB1 604 85% .

CIB2 588 100% .

CIB3 588 100% .

CIB4 586 98% .

CIC 4907 97% .

CIDEA 680 100% .

CIDEB 680 99% .

CIDEC 804 86% .

CIITA 3518 100% .

CILP 3587 100% .

CILP2 3503 94% .

CINP 660 100%CINP 660 100% .

CIR1 1415 99% .

CIRBP 992 100% .

CIRH1A 2170 100% North American Indian Childhood Cirrhosis

CISD1 339 100% .

CISD2 420 100% Wolfram Syndrome 2

CISD3 400 0% .

CISH 864 97% .

CIT 6398 100% .

CITED1 672 97% .

CITED2 817 100% .

CITED4 559 18% .

CIZ1 2761 89% .

CKAP2 2097 100% .





CKAP2L 2274 100% .

CKAP4 1817 74% .

CKAP5 6292 100% .

CKB 1174 90% .

CKLF 488 100% .

CKLF‐CMTM1 623 100% .

CKM 1174 100% .

CKMT1A 1383 42% .

CKMT1B 1430 43% .

CKMT2 1296 100% .

CKS1B 269 100% .

CKS2 252 100% .

CLASP1 4847 100% .

CLASP2 4910 99% .

CLASRP 2109 89% .

CLC 445 100% .

CLCA1 2801 100% .

CLCA2 2888 100% .

CLCA4 2819 100%CLCA4 2819 100% .

CLCC1 1696 100% .

CLCF1 690 97% CLCF1‐Related Cold‐Induced Sweating Syndrome including Crisponi Syndrome

CLCF1 690 97% Cold‐Induced Sweating Syndrome including Crisponi Syndrome

CLCN1 3059 96% Myotonia Congenita

CLCN1 3059 96% Myotonia Congenita, Autosomal Dominant

CLCN1 3059 96% Myotonia Congenita, Autosomal Recessive

CLCN2 2793 100% CLCN2‐Related Juvenile Myoclonic Epilepsy

CLCN2 2793 100% Juvenile Myoclonic Epilepsy

CLCN3 2736 97% .

CLCN4 2327 100% .

CLCN5 2508 99% Dent Disease

CLCN5 2508 99% Dent Disease 1

CLCN6 3045 100% .





CLCN7 2539 83% CLCN7‐Related Osteopetrosis

CLCNKA 2140 99% Bartter Syndrome Type 4B

CLCNKB 2288 100% Bartter Syndrome Type 3

CLCNKB 2288 100% Bartter Syndrome Type 4B

CLDN1 652 100% .

CLDN10 929 100% .

CLDN11 636 75% .

CLDN12 739 100% .

CLDN14 724 99% DFNB29 Nonsyndromic Hearing Loss and Deafness

CLDN14 724 99% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

CLDN15 707 100% .

CLDN16 938 100% Primary Hypomagnesemia

CLDN17 679 100% .

CLDN18 1030 99% .

CLDN19 705 90% Hypomagnesemia, Renal, with Ocular Involvement

CLDN2 697 100% .

CLDN20 664 100% .

CLDN22 667 100% .

CLDN23 1 0%CLDN23 1 0% .

CLDN24 619 100% .

CLDN25 694 100% .

CLDN3 667 100% .

CLDN4 634 100% .

CLDN5 916 76% .

CLDN6 667 100% .

CLDN7 694 100% .

CLDN8 682 100% .

CLDN9 658 100% .

CLDND1 874 100% .

CLDND2 520 100% .

CLEC10A 1169 100% .

CLEC11A 1037 79% .





CLEC12A 843 100% .

CLEC12B 874 100% .

CLEC14A 1477 86% .

CLEC16A 3382 100% .

CLEC17A 1220 91% .

CLEC18A 1483 39% .

CLEC18B 1629 85% .

CLEC18C 1425 32% .

CLEC1A 867 100% .

CLEC1B 714 100% .

CLEC2A 545 78% .

CLEC2B 466 100% .

CLEC2D 694 100% .

CLEC2L 665 59% .

CLEC3A 607 100% .

CLEC3B 621 96% .

CLEC4A 738 100% .

CLEC4C 666 100% .

CLEC4D 672 100%CLEC4D 672 100% .

CLEC4E 684 100% .

CLEC4F 1798 99% .

CLEC4G 1145 91% .

CLEC4M 1228 96% .

CLEC5A 676 99% .

CLEC6A 654 100% .

CLEC7A 1013 100% .

CLEC9A 750 100% .

CLECL1 513 100% .

CLGN 1889 100% .

CLIC1 786 95% .

CLIC2 768 100% .

CLIC3 735 75% .





CLIC4 786 99% .

CLIC5 1325 99% .

CLIC6 2085 45% .

CLINT1 1982 100% .

CLIP1 4498 100% .

CLIP2 3205 99% .

CLIP3 1696 95% .

CLIP4 2243 100% .

CLK1 1651 100% .

CLK2 1711 100% .

CLK3 2205 80% .

CLK4 1494 100% .

CLLU1 370 100% .

CLLU1OS 318 100% .

CLMN 3061 100% .

CLMP 1150 100% .

CLN3 1395 100% CLN3‐Related Neuronal Ceroid‐Lipofuscinosis

CLN3 1395 100% Neuronal Ceroid‐Lipofuscinoses

CLN3 1395 100% Neuronal Ceroid Lipofuscinosis JuvenileCLN3 1395 100% Neuronal Ceroid‐Lipofuscinosis, Juvenile



CLN5 1240 99% Neuronal Ceroid‐Lipofuscinosis, Finnish Variant





CLN8 869 100% Northern Epilepsy

CLNK 1364 100% .

CLNS1A 738 96% .

CLOCK 2621 100% .

CLP1 1286 100% .

CLPB 2192 100% .





CLPP 858 83% .

CLPS 352 100% .

CLPTM1 2066 96% .

CLPTM1L 1685 96% .

CLPX 1958 98% .

CLRN1 766 100% Usher Syndrome Type 3

CLRN1 766 100% Usher Syndrome Type 3A

CLRN2 711 100% .

CLRN3 693 100% .

CLSPN 4120 100% .

CLSTN1 3022 97% .

CLSTN2 2946 96% .

CLSTN3 2998 96% .

CLTA 776 93% .

CLTB 714 100% .

CLTC 5173 100% .

CLTCL1 5051 99% .

CLU 1411 100% .

CLUAP1 1290 100%CLUAP1 1290 100% .

CLUL1 1433 100% .

CLVS1 1085 100% .

CLVS2 1004 100% .

CLYBL 1216 95% .

CMA1 764 100% .

CMAS 1337 98% .

CMBL 758 100% .

CMC1 426 74% .

CMIP 2107 100% .

CMKLR1 1130 100% .

CMPK1 747 85% .

CMPK2 1374 54% .

CMTM1 877 100% .





CMTM2 763 100% .

CMTM3 569 76% .

CMTM4 729 74% .

CMTM5 491 100% .

CMTM6 568 94% .

CMTM7 548 70% .

CMTM8 538 95% .

CMYA5 12262 100% .

CNBD1 917 98% .

CNBP 582 100% Myotonic Dystrophy Type 2

CNDP1 1572 100% .

CNDP2 1472 100% .

CNFN 351 95% .

CNGA1 2316 91% CNGA1‐Related Retinitis Pigmentosa

CNGA1 2316 91% Retinitis Pigmentosa, Autosomal Recessive

CNGA2 2019 99% .

CNGA3 2113 100% Achromatopsia

CNGA3 2113 100% Achromatopsia 2

CNGA4 1856 100%CNGA4 1856 100% .

CNGB1 3914 98% CNGB1‐Related Retinitis Pigmentosa

CNGB1 3914 98% Retinitis Pigmentosa, Autosomal Recessive

CNGB3 2502 100% Achromatopsia

CNGB3 2502 100% Achromatopsia 3

CNGB3 2502 100% CNGB3‐Related Stargardt Disease 1

CNGB3 2502 100% Stargardt Disease, Autosomal Recessive

CNIH 455 82% .

CNIH2 507 95% .

CNIH3 507 83% .

CNIH4 440 99% .

CNKSR1 2490 99% .

CNKSR2 3202 100% .

CNKSR3 1720 100% .





CNN1 922 100% .

CNN2 958 95% .

CNN3 1018 100% .

CNNM1 2900 85% .

CNNM2 2720 99% .

CNNM3 2156 62% .

CNNM4 2356 96% .

CNO 658 56% .

CNOT1 7545 100% .

CNOT10 2313 99% .

CNOT2 1683 100% .

CNOT3 2437 100% .

CNOT4 2493 100% .

CNOT6 1718 100% .

CNOT6L 1717 100% .

CNOT7 882 100% .

CNOT8 903 100% .

CNP 1282 99% .

CNPPD1 1342 96%CNPPD1 1342 96% .

CNPY1 291 100% .

CNPY2 569 100% .

CNPY3 881 98% .

CNPY4 821 100% .

CNR1 1423 100% .

CNR2 1087 100% .

CNRIP1 652 80% .

CNST 2233 100% .

CNTD1 1021 100% .

CNTD2 944 70% .

CNTF 623 100% .

CNTFR 1151 92% .

CNTLN 4359 100% .





CNTN1 3233 100% .

CNTN2 3211 100% .

CNTN3 3175 100% .

CNTN4 3191 100% .

CNTN5 3388 100% .

CNTN6 3175 100% .

CNTNAP1 4251 99% .

CNTNAP2 4092 98% Pitt‐Hopkins‐Like Syndrome 1

CNTNAP3 3997 85% .

CNTNAP3B 4143 73% .

CNTNAP4 4130 100% .

CNTNAP5 4021 100% .

CNTRL 7309 100% .

CNTROB 2951 100% .

COA5 237 97% .

COASY 1822 100% .

COBL 3838 99% .

COBLL1 3614 97% .

COBRA1 1795 87%COBRA1 1795 87% .

COCH 1697 100% DFNA 9 Nonsyndromic Hearing Loss and Deafness

COCH 1697 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

COG1 2999 99% COG1‐CDG (CDG‐IIg)

COG1 2999 99% Congenital Disorders of Glycosylation

COG2 2289 100% .

COG3 2579 100% .

COG4 2446 100% COG4‐CDG (CDG‐IIj)


COG5 2675 100% COG5‐CDG (CDG‐IIi)


COG6 2175 95% COG6‐CDG (CDG‐IIL)


COG7 2381 100% COG7‐CDG (CDG‐IIe)






COG8 1859 98% COG8‐CDG (CDG‐IIh)


COIL 1759 100% .

COL10A1 2051 100% Metaphyseal Chondrodysplasia, Schmid Type

COL11A1 5888 100% COL11A1‐Related Stickler Syndrome

COL11A1 5888 100% Fibrochondrogenesis

COL11A1 5888 100% Marshall Syndrome

COL11A1 5888 100% Stickler Syndrome


COL11A2 5951 91% DFNA13 Nonsyndromic Hearing Loss and Deafness

COL11A2 5951 91% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

COL11A2 5951 91% Otospondylomegaepiphyseal Dysplasia


COL11A2 5951 91% Weissenbacher‐Zweymuller Syndrome

COL12A1 9488 99% .

COL13A1 2311 100% .

COL14A1 5599 100% .

COL15A1 4335 100%COL15A1 4335 100% .

COL16A1 5293 96% .

COL17A1 4746 100% COL17A1‐Related Junctional Epidermolysis Bullosa

COL17A1 4746 100% Junctional Epidermolysis Bullosa

COL18A1 5546 85% Knobloch Syndrome Type I

COL19A1 3633 100% .

COL1A1 4599 99% Caffey Disease

COL1A1 4599 99% COL1A1/2‐Related Osteogenesis Imperfecta

COL1A1 4599 99% Ehlers‐Danlos Syndrome Type VIIA

COL1A1 4599 99% Ehlers‐Danlos Syndrome, Arthrochalasia Type

COL1A1 4599 99% Osteogenesis Imperfecta Type I

COL1A1 4599 99% Osteogenesis Imperfecta Type II

COL1A1 4599 99% Osteogenesis Imperfecta Type III

COL1A1 4599 99% Osteogenesis Imperfecta Type IV





COL1A2 4309 98% COL1A1/2‐Related Osteogenesis Imperfecta

COL1A2 4309 98% Ehlers‐Danlos Syndrome Type VIIB

COL1A2 4309 98% Ehlers‐Danlos Syndrome, Arthrochalasia Type

COL1A2 4309 98% Osteogenesis Imperfecta Type I

COL1A2 4309 98% Osteogenesis Imperfecta Type II

COL1A2 4309 98% Osteogenesis Imperfecta Type III

COL1A2 4309 98% Osteogenesis Imperfecta Type IV

COL20A1 4030 97% .

COL21A1 3026 100% .

COL22A1 5137 98% .

COL23A1 1728 76% .

COL24A1 5385 100% .

COL25A1 2396 99% .

COL27A1 5875 94% .

COL28A1 3520 100% .

COL2A1 4725 93% Achondrogenesis Type 2

COL2A1 4725 93% Avascular Necrosis of Femoral Head, Primary

COL2A1 4725 93% COL2A1‐Associated Stickler Syndrome

COL2A1 4725 93% COL2A1 Related Stickler SyndromeCOL2A1 4725 93% COL2A1‐Related Stickler Syndrome

COL2A1 4725 93% Kniest Dysplasia

COL2A1 4725 93% Osteoarthritis with Mild Chondrodysplasia

COL2A1 4725 93% Platyspondylic Lethal Skeletal Dysplasia, Torrance Type

COL2A1 4725 93% Spondyloepimetaphyseal Dysplasia, Strudwick Type

COL2A1 4725 93% Spondyloepiphyseal Dysplasia

COL2A1 4725 93% Spondyloepiphyseal Dysplasia, Congenita

COL2A1 4725 93% Spondyloperipheral Dysplasia


COL2A1 4725 93% Type II Collagenopathies

COL3A1 4605 96% Ehlers‐Danlos Syndrome, Vascular Type

COL4A1 5218 98% Autosomal Dominant Type 1 Porencephaly

COL4A1 5218 98% Brain Small Vessel Disease with Hemorrhage

COL4A1 5218 98% COL4A1‐Related Disorders





COL4A1 5218 98% Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps

COL4A2 6026 89% .

COL4A3 5295 97% COL4A3 Alport Syndrome and Thin Basement Membrane Nephropathy

COL4A3 5295 97% Collagen IV‐Related Nephropathies (Alport Syndrome and Thin Basement Membrane Nephropathy)

COL4A3BP 2334 97% .

COL4A4 5258 100% COL4A4 Alport Syndrome and Thin Basement Membrane Nephropathy


COL4A5 5262 99% COL4A5 Alport Syndrome


COL4A6 5455 100% .

COL5A1 5781 93% Ehlers‐Danlos Syndrome, Classic Type

COL5A1 5781 93% Ehlers‐Danlos Syndrome, Classic Type, COL5A1‐Related

COL5A2 4716 98% Ehlers‐Danlos Syndrome, Classic Type

COL5A2 4716 98% Ehlers‐Danlos Syndrome, Classic Type, COL5A2‐Related

COL5A3 5506 95% .

COL6A1 3227 92% Bethlem Myopathy

COL6A1 3227 92% Collagen Type VI‐Related Disorders


COL6A2 3546 97% Collagen Type VI Related DisordersCOL6A2 3546 97% Collagen Type VI‐Related Disorders

COL6A2 3546 97% Myosclerosis, Autosomal Recessive


COL6A3 9753 100% Collagen Type VI‐Related Disorders

COL6A5 7758 31% .

COL6A6 6966 100% .

COL7A1 9307 99% Dystrophic Epidermolysis Bullosa

COL7A1 9307 99% Recessive Dystrophic Epidermolysis Bullosa, Generalized, Severe

COL8A1 2246 100% .

COL8A2 2120 83% .

COL9A1 3017 100% COL9A1‐Related Multiple Epiphyseal Dysplasia


COL9A1 3017 100% Multiple Epiphyseal Dysplasia, Dominant










COLEC10 858 100% .

COLEC11 1025 94% .

COLEC12 2269 99% .

COLQ 1626 98% COLQ‐Related Congenital Myasthenic Syndrome

COLQ 1626 98% Congenital Myasthenic Syndromes

COMMD1 585 100% .

COMMD10 637 100% .

COMMD2 700 100% .

COMMD3 712 80% .

COMMD3‐BMI1 1475 90% .

COMMD4 632 99% .

COMMD5 679 100% .

COMMD6 340 100% .

COMMD7 639 86% .

COMMD8 572 88%COMMD8 572 88% .

COMMD9 621 92% .

COMP 2350 93% COMP‐Related Multiple Epiphyseal Dysplasia

COMP 2350 93% Multiple Epiphyseal Dysplasia, Dominant

COMP 2350 93% Pseudoachondroplasia

COMT 983 99% .

COMTD1 817 53% .

COPA 3834 100% .

COPB1 2946 100% .

COPB2 2809 100% .

COPE 967 85% .

COPG 2781 99% .

COPG2 1260 100% .

COPS2 1405 100% .





COPS3 1320 100% .

COPS4 1290 100% .

COPS5 1037 100% .

COPS6 1024 95% .

COPS7A 856 100% .

COPS7B 819 100% .

COPS8 662 100% .

COPZ1 575 99% .

COPZ2 665 87% .

COQ10A 1000 97% .

COQ10B 737 100% .

COQ2 1294 94% Coenzyme Q10 Deficiency

COQ2 1294 94% COQ2‐Related Coenzyme Q10 Deficiency

COQ3 1138 100% .

COQ4 880 100% .

COQ5 1257 100% .

COQ6 1456 95% .

COQ7 678 100% .

COQ9 1176 94% Coenzyme Q10 DeficiencyCOQ9 1176 94% Coenzyme Q10 Deficiency

COQ9 1176 94% COQ9‐Related Coenzyme Q10 Deficiency

CORIN 3465 98% .

CORO1A 1695 94% .

CORO1B 1626 99% .

CORO1C 1470 100% .

CORO2A 1622 100% .

CORO2B 1491 99% .

CORO6 1711 95% .

CORO7 2890 98% .

CORO7‐PAM16 3271 98% .

CORT 476 100% .

COTL1 445 72% .

COX10 1377 100% Leigh Syndrome (nuclear DNA mutation)





COX10 1377 100% Mitochondrial Respiratory Chain Complex IV Deficiency (nuclear genes)

COX11 849 100% .

COX15 1339 100% Mitochondrial Respiratory Chain Complex IV Deficiency (nuclear genes)

COX16 337 100% .

COX17 200 100% .

COX18 1030 87% .

COX19 285 100% .

COX4I1 526 100% .

COX4I2 532 100% .

COX4NB 653 99% .

COX5A 469 78% .

COX5B 406 77% .

COX6A1 342 100% .

COX6A2 306 54% .

COX6B1 284 100% Mitochondrial Respiratory Chain Complex IV Deficiency (nuclear genes)

COX6B2 279 91% .

COX6C 236 100% .

COX7A1 256 92% .

COX7A2 494 100%COX7A2 494 100% .

COX7A2L 357 100% .

COX7B 255 100% .

COX7B2 250 100% .

COX7C 200 100% .

COX8A 218 94% .

COX8C 227 100% .

CP 3286 100% Aceruloplasminemia

CPA1 1300 100% .

CPA2 1304 100% .

CPA3 1298 100% .

CPA4 1310 100% .

CPA5 1355 99% .

CPA6 1358 100% .





CPAMD8 6009 89% .

CPB1 1298 100% .

CPB2 1316 100% .

CPD 4228 91% .

CPE 1471 94% .

CPEB1 1749 92% .

CPEB2 1851 92% .

CPEB3 2160 91% .

CPEB4 2230 100% .

CPLX1 1107 80% .

CPLX2 623 86% .

CPLX3 489 100% .

CPLX4 495 100% .

CPM 1364 100% .

CPN1 1413 100% .

CPN2 1642 100% .

CPNE1 4632 100% .

CPNE2 1707 98% .

CPNE3 1674 100%CPNE3 1674 100% .

CPNE4 1735 100% .

CPNE5 1866 94% .

CPNE6 1734 100% .

CPNE7 1970 81% .

CPNE8 1775 99% .

CPNE9 1739 100% .

CPO 1161 100% .

CPOX 1393 87% Hereditary Coproporphyria

CPPED1 961 99% .

CPS1 4677 100% Carbamoylphosphate Synthetase I Deficiency

CPSF1 4480 96% .

CPSF2 2405 100% .

CPSF3 2134 100% .





CPSF3L 2504 94% .

CPSF4 1037 100% .

CPSF4L 567 85% .

CPSF6 1695 100% .

CPSF7 1581 97% .

CPT1A 2434 100% Carnitine Palmitoyltransferase IA Deficiency

CPT1B 2391 100% .

CPT1C 2598 99% .

CPT2 1997 94% Carnitine Palmitoyltransferase II Deficiency

CPVL 1483 100% .

CPXCR1 910 100% .

CPXM1 2411 93% .

CPXM2 2327 89% .

CPZ 2092 96% .

CR1 7670 69% .

CR1L 1758 100% .

CR2 3355 99% .

CRABP1 430 100% .

CRABP2 433 100%CRABP2 433 100% .

CRADD 608 100% .

CRAMP1L 3890 85% .

CRAT 2132 99% .

CRB1 4273 100% CRB1‐Related Leber Congenital Amaurosis

CRB1 4273 100% CRB1‐Related Retinitis Pigmentosa

CRB1 4273 100% Leber Congenital Amaurosis

CRB1 4273 100% Pigmented Paravenous Chorioretinal Atrophy

CRB1 4273 100% Retinitis Pigmentosa, Autosomal Recessive

CRB2 4052 85% .

CRB3 451 86% .

CRBN 1385 100% .

CRCP 561 100% .

CRCT1 304 93% .





CREB1 1161 100% .

CREB3 1152 100% .

CREB3L1 1608 100% .

CREB3L2 1890 95% .

CREB3L3 1426 100% .

CREB3L4 1247 100% .

CREB5 1628 100% .

CREBBP 7453 98% CREBBP‐Related Rubinstein‐Taybi Syndrome

CREBBP 7453 98% Rubinstein‐Taybi Syndrome

CREBL2 379 100% .

CREBZF 1069 100% .

CREG1 679 48% .

CREG2 889 56% .

CRELD1 1521 100% Heterotaxy Syndrome

CRELD2 1253 89% .

CREM 1353 97% .

CRH 595 61% CRH‐Related Related Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant

CRH 595 61% Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant

CRHBP 1021 99%CRHBP 1021 99% .

CRHR1 1455 91% .

CRHR2 1594 83% .

CRIM1 3179 100% .

CRIP1 250 82% .

CRIP2 665 74% .

CRIP3 748 100% .

CRIPAK 1345 100% .

CRIPT 326 94% .

CRISP1 778 100% .

CRISP2 760 100% .

CRISP3 809 95% .

CRISPLD1 1559 100% .

CRISPLD2 1550 100% .





CRK 927 100% .

CRKL 924 100% .

CRLF1 1305 90% Cold‐Induced Sweating Syndrome including Crisponi Syndrome

CRLF1 1305 90% Crisponi Syndrome

CRLF1 1305 90% CRLF1‐Related Cold‐Induced Sweating Syndrome including Crisponi Syndrome

CRLF2 803 99% .

CRLF3 1361 100% .

CRLS1 947 67% .

CRMP1 2160 81% .

CRNKL1 2607 97% .

CRNN 1496 100% .

CROCC 6202 74% .

CROT 2015 100% .

CRP 683 100% .

CRTAC1 2169 94% .

CRTAM 1222 100% .

CRTAP 1234 97% CRTAP‐Related Osteogenesis Imperfecta

CRTC1 2111 92% .

CRTC2 2140 100%CRTC2 2140 100% .

CRTC3 1920 95% .

CRX 912 100% Cone‐Rod Dystrophy 2

CRX 912 100% CRX‐Related Leber Congenital Amaurosis

CRX 912 100% CRX‐Related Retinitis Pigmentosa

CRX 912 100% Leber Congenital Amaurosis

CRX 912 100% Retinitis Pigmentosa, Autosomal Dominant

CRY1 1809 100% .

CRY2 1925 98% .

CRYAA 534 100% .

CRYAB 540 100% Alpha‐B Crystallinopathy

CRYAB 540 100% Myofibrillar Myopathy

CRYAB 540 100% Posterior Polar Cataract 2

CRYBA1 672 100% .





CRYBA2 610 100% .

CRYBA4 611 100% .

CRYBB1 779 100% .

CRYBB2 638 100% .

CRYBB3 656 100% .

CRYGA 537 100% .

CRYGB 540 100% .

CRYGC 537 100% .

CRYGD 537 100% Cataracts, Autosomal Dominant

CRYGN 673 98% .

CRYGS 549 100% .

CRYL1 1202 96% .

CRYM 977 91% .

CRYZ 1022 100% .

CRYZL1 1185 100% .

CS 1445 98% .

CSAD 1778 96% .

CSAG1 525 100% .

CSAG2 784 0%CSAG2 784 0% .

CSAG3 784 0% .

CSDA 1155 85% .

CSDC2 478 90% .

CSDE1 2611 100% .

CSE1L 3012 100% .

CSF1 1697 97% .

CSF1R 3076 100% .

CSF2 451 100% .

CSF2RA 1594 92% CSF2RA‐Related Pulmonary Surfactant Metabolism Dysfunction

CSF2RA 1594 92% Pulmonary Surfactant Metabolism Dysfunction

CSF2RB 2764 98% .

CSF3 672 94% .

CSF3R 2761 100% .





CSGALNACT1 1627 100% .

CSGALNACT2 1657 100% .

CSH1 952 78% .

CSH2 722 86% .

CSHL1 952 100% .

CSK 1401 100% .

CSMD1 10559 100% .

CSMD2 10848 100% .

CSMD3 11470 100% .

CSN1S1 618 99% .

CSN2 705 100% .

CSN3 561 100% .

CSNK1A1 1147 100% .

CSNK1A1L 1018 100% .

CSNK1D 1477 88% .

CSNK1E 1287 98% .

CSNK1G1 1313 100% .

CSNK1G2 1292 99% .

CSNK1G3 1423 100%CSNK1G3 1423 100% .

CSNK2A1 1244 100% .

CSNK2A2 1097 99% .

CSNK2B 719 95% .

CSPG4 7009 97% .

CSPG5 1721 94% .

CSPP1 3782 100% .

CSRNP1 1826 98% .

CSRNP2 1648 100% .

CSRNP3 1797 100% .

CSRP1 602 100% .

CSRP2 602 100% .

CSRP2BP 2389 100% .

CSRP3 605 100% CSRP3‐Related Dilated Cardiomyopathy





CSRP3 605 100% CSRP3‐Related Familial Hypertrophic Cardiomyopathy

CSRP3 605 100% Dilated Cardiomyopathy

CSRP3 605 100% Familial Hypertrophic Cardiomyopathy

CST1 438 100% .

CST11 429 100% .

CST2 438 100% .

CST3 453 54% .

CST4 438 100% .

CST5 441 100% .

CST6 462 98% .

CST7 520 100% .

CST8 441 100% .

CST9 488 100% .

CST9L 456 100% .

CSTA 333 100% .

CSTB 309 77% Unverricht‐Lundborg Disease

CSTF1 1316 100% .

CSTF2 1786 100% .

CSTF2T 1855 100%CSTF2T 1855 100% .

CSTF3 2468 100% .

CSTL1 450 100% .

CT45A1 586 18% .

CT45A2 586 2% .

CT45A3 586 10% .

CT45A4 1172 3% .

CT45A5 586 56% .

CT45A6 586 8% .

CT47A1 8622 1% .

CT47A10 7875 0% .

CT47A11 7875 0% .

CT47A12 7875 0% .

CT47A2 7875 0% .





CT47A3 7875 0% .

CT47A4 7875 0% .

CT47A5 7875 0% .

CT47A6 8750 3% .

CT47A7 875 0% .

CT47A8 7875 0% .

CT47A9 7875 0% .

CT47B1 908 100% .

CT62 419 100% .

CTAG1A 1448 0% .

CTAG1B 1448 0% .

CTAG2 780 94% .

CTAGE1 2242 100% .

CTAGE15P 1 0% .

CTAGE4 4676 23% .

CTAGE5 2557 100% .

CTAGE6P 1 0% .

CTAGE9 2338 99% .

CTBP1 1779 76%CTBP1 1779 76% .

CTBP2 3056 99% .

CTBS 1186 94% .

CTC1 3746 99% .

CTCF 2224 100% .

CTCFL 2034 100% .

CTDNEP1 767 100% .

CTDP1 2938 83% Congenital Cataracts, Facial Dysmorphism, and Neuropathy

CTDSP1 911 84% .

CTDSP2 916 100% .

CTDSPL 863 90% .

CTDSPL2 1449 100% .

CTF1 619 24% .

CTGF 1070 74% .





CTH 1266 100% Cystathioninuria

CTHRC1 932 85% .

CTIF 1990 100% .

CTLA4 688 100% .

CTNNA1 2789 100% .

CTNNA2 2786 100% .

CTNNA3 2762 100% .

CTNNAL1 2281 94% .

CTNNB1 2402 100% .

CTNNBIP1 282 98% .

CTNNBL1 1761 94% .

CTNND1 2986 100% .

CTNND2 3766 91% .

CTNS 1266 100% Cystinosis

CTNS 1266 100% Nephropathic Cystinosis

CTPS 1844 100% .

CTPS2 1829 100% .

CTR9 3622 100% .

CTRB1 820 55%CTRB1 820 55% .

CTRB2 820 38% .

CTRC 839 100% CTRC‐Related Hereditary Pancreatitis

CTRC 839 100% Hereditary Pancreatitis

CTRL 1036 98% .

CTSA 1557 97% Galactosialidosis

CTSB 1313 94% .

CTSC 1559 92% Papillon‐Lefevre Disease

CTSC 1559 92% Papillon‐Lefevre Syndrome

CTSD 1419 95% CTSD‐Related Neuronal Ceroid‐Lipofuscinosis

CTSD 1419 95% Neuronal Ceroid‐Lipofuscinoses

CTSE 1285 100% .

CTSF 1507 85% .

CTSG 788 100% .





CTSH 1056 90% .

CTSK 1019 100% Pycnodysostosis

CTSL1 1087 100% .

CTSL2 1033 100% .

CTSO 998 86% .

CTSS 1024 100% .

CTSW 1171 100% .

CTSZ 936 84% .

CTTN 2178 100% .

CTTNBP2 5084 99% .

CTTNBP2NL 1936 100% .

CTU1 1055 45% .

CTU2 1821 96% .

CTXN1 253 88% .

CTXN2 250 0% .

CTXN3 250 100% .

CUBN 11164 100% Megaloblastic Anemia

CUEDC1 1198 96% .

CUEDC2 896 100%CUEDC2 896 100% .

CUL1 2415 100% .

CUL2 2320 100% .

CUL3 2371 100% .

CUL4A 2362 90% .

CUL4B 2839 100% Mental Retardation, X‐Linked, with Short Stature, Small Testes, Muscle Wasting, and Tremor

CUL5 2420 100% .

CUL7 5198 100% 3‐M Syndrome

CUL7 5198 100% 3‐M Syndrome, CUL7‐Related

CUL9 7785 100% .

CUTA 791 99% .

CUTC 858 92% .

CUX1 5499 94% .

CUX2 4557 98% .





CUZD1 1860 100% .

CWC15 713 100% .

CWC22 2807 100% .

CWC25 1318 100% .

CWC27 1475 100% .

CWF19L1 1673 100% .

CWF19L2 2757 100% .

CWH43 2168 99% .

CX3CL1 1206 100% .

CX3CR1 1172 100% .

CXADR 1175 97% .

CXCL1 340 100% .

CXCL10 313 100% .

CXCL11 301 100% .

CXCL12 561 93% .

CXCL13 346 100% .

CXCL14 352 75% .

CXCL16 842 100% .

CXCL17 376 100%CXCL17 376 100% .

CXCL2 340 100% .

CXCL3 340 100% .

CXCL5 361 100% .

CXCL6 377 100% .

CXCL9 394 100% .

CXCR1 1057 100% .

CXCR2 1087 100% .

CXCR3 1299 100% .

CXCR4 1094 100% .

CXCR5 1127 100% .

CXCR6 1033 100% .

CXCR7 1093 100% .

CXorf1 340 100% .





CXorf21 910 100% .

CXorf22 2995 100% .

CXorf23 2180 100% .

CXorf26 835 96% .

CXorf27 358 100% .

CXorf30 2072 100% .

CXorf36 1377 100% .

CXorf38 984 100% .

CXorf40A 498 99% .

CXorf40B 485 100% .

CXorf41 669 100% .

CXorf48 823 67% .

CXorf49 10 0% .

CXorf49B 10 0% .

CXorf51A 4 0% .

CXorf51B 4 0% .

CXorf56 697 100% .

CXorf57 2755 100% .

CXorf58 1067 100%CXorf58 1067 100% .

CXorf59 1607 100% .

CXorf61 350 100% .

CXorf64 905 100% .

CXorf65 636 100% .

CXorf66 1098 100% .

CXorf68 312 100% .

CXorf69 447 74% .

CXXC1 2043 100% .

CXXC11 1727 94% .

CXXC4 605 100% .

CXXC5 977 100% .

CYB561 823 100% .

CYB561D1 887 87% .





CYB561D2 681 100% .

CYB5A 438 100% .

CYB5B 487 100% .

CYB5D1 703 100% .

CYB5D2 811 100% .

CYB5R1 1094 100% .

CYB5R2 1132 100% .

CYB5R3 943 89% Methemoglobinemia Due to Deficiency of Methemoglobin Reductase

CYB5R4 1630 100% .

CYB5RL 972 100% .

CYBA 612 55% Chronic Granulomatous Disease

CYBA 612 55% Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome b‐Negative

CYBASC3 804 95% .

CYBB 1765 100% Chronic Granulomatous Disease

CYBB 1765 100% Chronic Granulomatous Disease, X‐linked

CYBRD1 877 100% .

CYC1 1006 87% .

CYCS 326 100% Thrombocytopenia 4

CYFIP1 4269 96%CYFIP1 4269 96% .

CYFIP2 3883 100% .

CYGB 589 95% .

CYHR1 1621 98% .

CYLC1 1976 99% .

CYLC2 1067 100% .

CYLD 2927 100% Brooke‐Spiegler Syndrome

CYLD 2927 100% Familial Cylindromatosis

CYLD 2927 100% Multiple Familial Trichoepithelioma 1

CYP11A1 1649 100% .

CYP11B1 1650 100% 11‐beta‐Hydroxylase‐Deficient Congenital Adrenal Hyperplasia

CYP11B1 1650 100% Familial Hyperaldosteronism Type 1

CYP11B2 1548 100% Corticosterone Methyloxidase Type I Deficiency

CYP11B2 1548 100% Corticosterone Methyloxidase Type II Deficiency





CYP11B2 1548 100% Familial Hyperaldosteronism Type 1

CYP11B2 1548 100% Familial Hypoaldosteronism Type 2

CYP17A1 1559 100% 17‐alpha‐Hydroxylase‐Deficient Congenital Adrenal Hyperplasia

CYP19A1 1577 100% Aromatase Deficiency

CYP1A1 1563 100% .

CYP1A2 1575 100% .

CYP1B1 1640 95% CYP1B1‐Related Primary Congenital Glaucoma

CYP1B1 1640 95% Peters Anomaly

CYP1B1 1640 95% Primary Congenital Glaucoma

CYP20A1 1474 100% .

CYP21A2 1641 79% 21‐Hydroxylase‐Deficient Congenital Adrenal Hyperplasia

CYP24A1 1612 96% .

CYP26A1 1522 100% .

CYP26B1 1563 96% .

CYP26C1 1938 80% .

CYP27A1 1632 97% Cerebrotendinous Xanthomatosis

CYP27B1 1563 92% Vitamin D‐Dependent Rickets, Type I

CYP27C1 1147 100% .

CYP2A13 1521 100%CYP2A13 1521 100% .

CYP2A6 1521 100% .

CYP2A7 1531 100% .

CYP2B6 1563 100% .

CYP2C18 1509 100% .

CYP2C19 1509 100% .

CYP2C8 1510 100% .

CYP2C9 1509 100% .

CYP2D6 1586 99% .

CYP2E1 1693 100% .

CYP2F1 1512 100% .

CYP2J2 1545 100% .

CYP2R1 1526 100% .

CYP2S1 1551 91% .





CYP2U1 1655 76% .

CYP2W1 1721 72% .

CYP39A1 1458 100% .

CYP3A4 1603 100% .

CYP3A43 1579 100% .

CYP3A5 1670 100% .

CYP3A7 1564 100% .

CYP46A1 1590 89% .

CYP4A11 1615 100% .

CYP4A22 1664 100% .

CYP4B1 1587 100% .

CYP4F11 1623 100% .

CYP4F12 1878 100% .

CYP4F2 1611 100% .

CYP4F22 1644 100% Autosomal Recessive Congenital Ichthyosis

CYP4F22 1644 100% CYP4F22‐Related Autosomal Recessive Congenital Ichthyosis

CYP4F3 1612 100% .

CYP4F8 1852 100% .

CYP4V2 1622 92% Bietti Crystalline RetinopathyCYP4V2 1622 92% Bietti Crystalline Retinopathy

CYP4V2 1622 92% Corneal Dystrophy

CYP4X1 1578 100% .

CYP4Z1 1566 97% .

CYP51A1 1570 100% .

CYP7A1 1539 100% .

CYP7B1 1545 92% Spastic Paraplegia 5A

CYP8B1 1510 100% .

CYR61 1166 100% .

CYS1 489 31% .

CYSLTR1 1018 100% .

CYSLTR2 1045 100% .

CYTH1 1250 98% .

CYTH2 1255 98% .





CYTH3 1255 93% .

CYTH4 1301 100% .

CYTIP 1112 100% .

CYTL1 427 100% .

CYYR1 484 100% .

D2HGDH 1604 94% D‐2‐Hydroxyglutaric Aciduria

D4S234E 574 100% .

DAAM1 3337 100% .

DAAM2 3444 100% .

DAB1 1765 100% .

DAB2 2386 100% .

DAB2IP 3564 98% .

DACH1 2171 94% Anophthalmia/Microphthalmia

DACH2 1898 100% .

DACT1 2527 92% .

DACT2 2341 85% .

DACT3 1953 43% .

DAD1 350 100% .

DAG1 2698 100%DAG1 2698 100% .

DAGLA 3205 100% .

DAGLB 2079 100% .

DAK 1796 98% .

DALRD3 1828 86% .

DAND5 578 100% .

DAO 1084 100% .

DAOA 587 100% .

DAP 674 94% .

DAP3 1245 100% .

DAPK1 4393 100% .

DAPK2 1223 100% .

DAPK3 1397 97% .

DAPL1 340 90% .





DAPP1 879 100% .

DARC 1046 100% .

DARS 1687 100% .

DARS2 2006 100% Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation

DAXX 2292 98% .

DAZ1 2382 2% .

DAZ2 3706 6% .

DAZ3 4398 6% .

DAZ4 6394 5% .

DAZAP1 1365 97% .

DAZAP2 925 100% .

DAZL 999 99% .

DBC1 2355 100% .

DBF4 2073 100% .

DBF4B 1977 99% .

DBH 1903 100% Dopamine Beta‐Hydroxylase Deficiency

DBI 362 99% .

DBN1 2306 95% .

DBNDD1 588 94%DBNDD1 588 94% .

DBNDD2 1029 80% .

DBNL 1499 88% .

DBP 1191 53% .

DBR1 1667 100% .

DBT 1493 100% Maple Syrup Urine Disease

DBT 1493 100% Maple Syrup Urine Disease Type 2

DBX1 1165 87% .

DBX2 1036 79% .

DCAF10 1708 88% .

DCAF11 1708 100% .

DCAF12 1398 100% .

DCAF12L1 1396 100% .

DCAF12L2 1396 100% .





DCAF13 1838 100% .

DCAF15 1855 93% .

DCAF16 655 100% .

DCAF17 1619 93% .

DCAF4 1543 100% .

DCAF4L1 1195 100% .

DCAF4L2 1192 100% .

DCAF5 2865 100% .

DCAF6 2948 100% .

DCAF7 1058 100% .

DCAF8 1842 100% .

DCAF8L1 1807 100% .

DCAF8L2 1 0% .

DCAKD 712 100% .

DCBLD1 1840 94% .

DCBLD2 2508 97% .

DCC 4460 100% .

DCD 353 91% .

DCDC1 1093 100%DCDC1 1093 100% .

DCDC2 1796 100% .

DCDC2B 1086 97% .

DCDC5 2826 100% .

DCHS1 10263 95% .

DCHS2 11085 94% .

DCK 941 100% .

DCLK1 2449 100% .

DCLK2 2420 99% .

DCLK3 1963 100% .

DCLRE1A 3159 100% .

DCLRE1B 1615 100% .

DCLRE1C 2135 100% Omenn Syndrome

DCN 1108 100% Congenital Stromal Corneal Dystrophy





DCP1A 1800 100% .

DCP1B 1890 100% .

DCP2 1537 100% .

DCPS 1038 100% .

DCST1 2190 100% .

DCST2 2382 100% .

DCT 1848 100% .

DCTD 594 95% .

DCTN1 4113 100% Distal Hereditary Motor Neuronopathy Type VIIB

DCTN1 4113 100% Perry Syndrome

DCTN2 1262 97% .

DCTN3 939 100% .

DCTN4 1460 98% .

DCTN5 575 100% .

DCTN6 601 100% .

DCTPP1 525 100% .

DCUN1D1 808 100% .

DCUN1D2 950 84% .

DCUN1D3 923 100%DCUN1D3 923 100% .

DCUN1D4 942 97% .

DCUN1D5 746 100% .

DCX 1369 100% DCX‐Related Disorders

DCXR 767 90% .

DDA1 329 92% .

DDAH1 882 95% .

DDAH2 958 96% .

DDB1 3531 98% .

DDB2 1324 100% DDB2‐Related Xeroderma Pigmentosum

DDB2 1324 100% Xeroderma Pigmentosum

DDC 1584 100% Aromatic L‐Amino Acid Decarboxylase Deficiency

DDHD1 2780 97% .

DDHD2 2200 100% .





DDI1 1195 100% .

DDI2 1236 100% .

DDIT3 518 100% .

DDIT4 707 100% .

DDIT4L 590 100% .

DDN 2144 100% .

DDO 1130 100% .

DDOST 1415 88% .

DDR1 3096 96% .

DDR2 2808 100% Spondylometaepiphyseal Dysplasia, Short Limb‐Hand Type

DDRGK1 1153 96% .

DDT 394 20% .

DDTL 417 30% .

DDX1 2327 99% .

DDX10 2704 100% .

DDX11 3173 100% .

DDX17 2258 100% .

DDX18 2069 100% .

DDX19A 1594 100%DDX19A 1594 100% .

DDX19B 1488 100% .

DDX20 2519 98% .

DDX21 2412 100% .

DDX23 2527 100% .

DDX24 2612 100% .

DDX25 1500 96% .

DDX26B 2654 100% .

DDX27 2769 100% .

DDX28 1627 100% .

DDX31 2701 98% .

DDX39A 1570 100% .

DDX39B 1688 96% .

DDX3X 2061 100% .





DDX3Y 2051 100% .

DDX4 2300 98% .

DDX41 2016 100% .

DDX42 2885 100% .

DDX43 2011 100% .

DDX46 3191 100% .

DDX47 1445 100% .

DDX49 1533 97% .

DDX5 1897 100% .

DDX50 2274 98% .

DDX51 2061 76% .

DDX52 1860 100% .

DDX53 1900 100% .

DDX54 2729 96% .

DDX55 1931 96% .

DDX56 1889 100% .

DDX58 2850 100% .

DDX59 1888 100% .

DDX6 1500 100%DDX6 1500 100% .

DDX60 5345 100% .

DDX60L 5276 100% .

DEAF1 1746 83% .

DECR1 1048 100% 2,4‐Dienoyl‐CoA Reductase Deficiency

DECR2 990 90% .

DEDD 1063 100% .

DEDD2 997 97% .

DEF6 1940 92% .

DEF8 1667 96% .

DEFA1 879 32% .

DEFA1B 879 32% .

DEFA3 293 97% .

DEFA4 302 100% .





DEFA5 293 100% .

DEFA6 311 100% .

DEFB1 215 100% .

DEFB103A 424 0% .

DEFB103B 424 0% .

DEFB104A 454 61% .

DEFB104B 454 61% .

DEFB105A 498 30% .

DEFB105B 498 30% .

DEFB106A 412 89% .

DEFB106B 412 89% .

DEFB107A 442 22% .

DEFB107B 442 22% .

DEFB108B 230 100% .

DEFB110 350 100% .

DEFB112 350 100% .

DEFB113 257 100% .

DEFB114 218 100% .

DEFB115 275 100%DEFB115 275 100% .

DEFB116 317 100% .

DEFB118 380 100% .

DEFB119 517 100% .

DEFB121 240 100% .

DEFB123 212 100% .

DEFB124 224 100% .

DEFB125 479 100% .

DEFB126 344 100% .

DEFB127 308 100% .

DEFB128 290 100% .

DEFB129 560 100% .

DEFB130 496 20% .

DEFB131 221 100% .





DEFB132 296 100% .

DEFB133 194 100% .

DEFB134 209 100% .

DEFB135 242 100% .

DEFB136 245 100% .

DEFB4A 203 39% .

DEFB4B 203 85% .

DEGS1 984 91% .

DEGS2 984 91% .

DEK 1210 100% .

DEM1 1126 100% .

DENND1A 3225 90% .

DENND1B 2462 99% .

DENND1C 2498 99% .

DENND2A 3165 100% .

DENND2C 2863 100% .

DENND2D 1464 100% .

DENND3 3940 99% .

DENND4A 5848 98%DENND4A 5848 98% .

DENND4B 4599 100% .

DENND4C 5189 100% .

DENND5A 3956 99% .

DENND5B 3954 97% .

DENR 631 99% .

DEPDC1 2781 100% .

DEPDC1B 1634 98% .

DEPDC4 1041 100% .

DEPDC5 5062 100% .

DEPDC7 1731 97% .

DEPTOR 1266 100% .

DERA 1098 97% .

DERL1 788 100% .





DERL2 748 100% .

DERL3 992 77% .

DES 1449 93% Desminopathy

DES 1449 93% DES‐Related Dilated Cardiomyopathy

DES 1449 93% Dilated Cardiomyopathy

DES 1449 93% Myofibrillar Myopathy

DES 1449 93% Neurogenic Scapuloperoneal Syndrome , Kaeser Type

DET1 1706 100% .

DEXI 292 98% .

DFFA 1044 100% .

DFFB 1117 99% .

DFNA5 1578 100% DFNA 5 Nonsyndromic Hearing Loss and Deafness

DFNA5 1578 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

DFNB31 3086 99% DFNB31 Nonsyndromic Hearing Loss and Deafness

DFNB31 3086 99% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

DFNB31 3086 99% Usher Syndrome Type 2

DFNB31 3086 99% Usher Syndrome Type 2D

DFNB59 1139 100% DFNB59 Nonsyndromic Hearing Loss and Deafness

DFNB59 1139 100% Nonsyndromic Hearing Loss and Deafness Autosomal RecessiveDFNB59 1139 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

DGAT1 1535 85% .

DGAT2 1199 100% .

DGAT2L6 1042 99% .

DGCR14 1471 100% .

DGCR2 1693 95% .

DGCR6 683 99% .

DGCR6L 683 99% .

DGCR8 2374 100% .

DGKA 2486 100% .

DGKB 2530 100% .

DGKD 3789 96% .

DGKE 1748 100% .

DGKG 2472 100% .





DGKH 3835 99% .

DGKI 3364 93% .

DGKK 28 0% .

DGKQ 3149 81% .

DGKZ 4099 80% .

DGUOK 862 100% DGUOK‐Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form

DGUOK 862 100% Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form

DHCR24 1587 100% Desmosterolosis

DHCR7 1456 100% Smith‐Lemli‐Opitz Syndrome

DHDDS 1148 100% .

DHDH 1033 98% .

DHFR 588 100% .

DHFRL1 568 100% .

DHH 1203 85% 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis

DHH 1203 85% DHH‐Related 46,XY DSD and 46,XY CGD

DHODH 1224 90% .

DHPS 1147 100% .

DHRS1 974 100% .

DHRS11 811 85%DHRS11 811 85% .

DHRS12 1026 91% .

DHRS13 1154 90% .

DHRS2 935 100% .

DHRS3 933 100% .

DHRS4 869 100% .

DHRS4L1 463 99% .

DHRS4L2 750 100% .

DHRS7 1160 100% .

DHRS7B 1016 98% .

DHRS7C 963 100% .

DHRS9 976 100% .

DHRSX 1028 88% .

DHTKD1 2858 100% .





DHX15 2444 100% .

DHX16 3376 96% .

DHX29 4218 100% .

DHX30 3676 100% .

DHX32 2276 100% .

DHX33 2349 93% .

DHX34 3496 98% .

DHX35 2200 100% .

DHX36 3127 100% .

DHX37 3582 99% .

DHX38 3788 97% .

DHX40 2412 89% .

DHX57 4253 100% .

DHX58 2085 100% .

DHX8 3755 100% .

DHX9 3921 100% .

DIABLO 746 99% .

DIAPH1 3921 96% DFNA 1 Nonsyndromic Hearing Loss and Deafness

DIAPH1 3921 96% Nonsyndromic Hearing Loss and Deafness Autosomal DominantDIAPH1 3921 96% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

DIAPH2 3500 97% .

DIAPH3 3854 100% .

DICER1 5873 100% .

DIDO1 6909 99% .

DIEXF 2459 100% .

DIMT1 1009 99% .

DIO1 766 100% .

DIO2 1057 100% .

DIO3 919 100% .

DIP2A 4954 98% .

DIP2B 4918 98% .

DIP2C 4819 99% .

DIRAS1 601 100% .





DIRAS2 604 100% .

DIRAS3 694 100% .

DIRC1 319 100% .

DIRC2 1473 94% .

DIS3 3033 98% .

DIS3L 3233 96% .

DIS3L2 2949 97% .

DISC1 2853 97% .

DISP1 4603 100% .

DISP2 4238 96% .

DIXDC1 2158 99% .

DKC1 1639 99% DKC1‐Related Dyskeratosis Congenita

DKC1 1639 99% Dyskeratosis Congenita

DKFZp761E198 1 0% .

DKK1 817 100% .

DKK2 796 100% .

DKK3 1123 100% .

DKK4 691 100% .

DKKL1 749 100%DKKL1 749 100% .

DLAT 2000 100% Dihydrolipoamide Acetyltransferase (E2) Deficiency

DLC1 4740 100% .

DLD 1586 100% Dihydrolipoamide Dehydrogenase (E3) Deficiency

DLD 1586 100% Leigh Syndrome (nuclear DNA mutation)

DLD 1586 100% Maple Syrup Urine Disease Type 3

DLEC1 5714 100% .

DLEU7 491 52% .

DLG1 3240 100% .

DLG2 3604 100% .

DLG3 2818 92% DLG3‐Related X‐Linked Nonsyndromic Mental Retardation

DLG4 2528 99% .

DLG5 5888 97% .

DLGAP1 3215 98% .





DLGAP2 3038 100% .

DLGAP3 2980 94% .

DLGAP4 3199 100% .

DLGAP5 2708 99% .

DLK1 1172 100% .

DLK2 1172 94% .

DLL1 2290 86% .

DLL3 1899 69% DLL3‐Related Spondylocostal Dysostosis, Autosomal Recessive

DLL3 1899 69% Spondylocostal Dysostosis

DLL3 1899 69% Spondylocostal Dysostosis, Autosomal Recessive

DLL3 1899 69% Syndactyly, Type IV

DLL4 2102 100% .

DLST 1422 99% .

DLX1 1020 100% .

DLX2 999 93% .

DLX3 876 100% Amelogenesis Imperfecta, Type IV

DLX4 802 100% .

DLX5 882 100% .

DLX6 814 96%DLX6 814 96% .

DMAP1 1444 99% .

DMBT1 7577 80% .

DMBX1 1165 100% .

DMC1 1075 100% .

DMD 11700 100% DMD‐Associated Dilated Cardiomyopathy

DMD 11700 100% DMD‐Related Dilated Cardiomyopathy

DMD 11700 100% Dystrophinopathies

DMGDH 2665 96% .

DMKN 1884 97% .

DMP1 1562 100% Hypophosphatemic Rickets, Autosomal Recessive 1

DMPK 2147 89% Myotonic Dystrophy Type 1

DMRT1 1142 93% .

DMRT2 1755 76% .





DMRT3 1470 97% .

DMRTA1 1523 95% .

DMRTA2 1637 53% .

DMRTB1 1045 80% .

DMRTC1 1206 22% .

DMRTC1B 1206 22% .

DMRTC2 1285 100% .

DMTF1 2348 100% .

DMWD 2045 87% .

DMXL1 9256 100% .

DMXL2 9283 100% .

DNA2 3578 100% .

DNAAF1 2274 98% .

DNAAF2 2526 98% .

DNAH1 13519 100% .

DNAH10 13749 100% .

DNAH11 13901 100% Primary Ciliary Dyskinesia

DNAH11 13901 100% Primary Ciliary Dyskinesia 7: DNAH11‐Related Primary Ciliary Dyskinesia

DNAH12 9661 62%DNAH12 9661 62% .

DNAH14 14081 76% .

DNAH17 13959 100% .

DNAH2 14093 100% .

DNAH3 12697 100% .

DNAH5 14191 99% Primary Ciliary Dyskinesia

DNAH5 14191 99% Primary Ciliary Dyskinesia 3: DNAH5‐Related Primary Ciliary Dyskinesia

DNAH6 12865 100% .

DNAH7 12339 100% .

DNAH8 14534 100% .

DNAH9 13737 97% .

DNAI1 2180 96% Primary Ciliary Dyskinesia

DNAI1 2180 96% Primary Ciliary Dyskinesia 1: DNAI1‐Related Primary Ciliary Dyskinesia

DNAI2 1866 100% Primary Ciliary Dyskinesia





DNAI2 1866 100% Primary Ciliary Dyskinesia 9: DNAI2‐Related Primary Ciliary Dyskinesia

DNAJA1 1226 100% .

DNAJA2 1275 100% .

DNAJA3 1514 99% .

DNAJA4 1445 94% .

DNAJB1 1035 100% .

DNAJB11 1117 100% .

DNAJB12 1262 100% .

DNAJB13 983 100% .

DNAJB14 1172 100% .

DNAJB2 1066 100% .

DNAJB3 1 0% .

DNAJB4 1026 100% .

DNAJB5 1280 86% .

DNAJB6 1129 77% .

DNAJB7 934 100% .

DNAJB8 703 100% .

DNAJB9 680 100% .

DNAJC1 1713 94%DNAJC1 1713 94% .

DNAJC10 2470 100% .

DNAJC11 1744 100% .

DNAJC12 644 100% .

DNAJC13 6991 100% .

DNAJC14 2226 100% .

DNAJC15 477 100% .

DNAJC16 2415 100% .

DNAJC17 1039 100% .

DNAJC18 1109 100% .

DNAJC19 375 99% 3‐Methylglutaconic Aciduria Type 5

DNAJC2 1976 100% .

DNAJC21 1822 100% .

DNAJC22 1034 100% .





DNAJC24 466 100% .

DNAJC25 1099 72% .

DNAJC25‐GNG10 470 34% .

DNAJC27 850 100% .

DNAJC28 1171 100% .

DNAJC3 1563 100% .

DNAJC30 685 100% .

DNAJC4 750 96% .

DNAJC5 613 97% .

DNAJC5B 616 100% .

DNAJC5G 593 100% .

DNAJC6 2824 100% .

DNAJC7 1541 100% .

DNAJC8 798 100% .

DNAJC9 997 80% .

DNAL1 605 100% .

DNAL4 384 98% .

DNALI1 867 100% .

DNASE1 881 100%DNASE1 881 100% .

DNASE1L1 1012 100% .

DNASE1L2 924 91% .

DNASE1L3 1041 100% .

DNASE2 1107 98% .

DNASE2B 1110 100% .

DND1 1078 84% .

DNER 2266 88% .

DNHD1 14435 57% .

DNLZ 549 81% .

DNM1 2709 90% .

DNM1L 2516 100% Lethal Encephalopathy Due To Defective Mitochondrial Peroxisomal Fission

DNM2 2840 98% DNM2‐Related Intermediate Charcot‐Marie‐Tooth Neuropathy

DNM2 2840 98% Myotubular Myopathy, Dominant





DNM3 2661 100% .

DNMBP 4870 100% .

DNMT1 5063 99% .

DNMT3A 3050 94% .

DNMT3B 2690 100% Immunodeficiency‐Centromeric Instability‐Facial Anomalies Syndrome

DNMT3L 1208 100% .

DNPEP 1563 100% .

DNTT 1574 100% .

DNTTIP1 1091 94% .

DNTTIP2 2461 100% .

DOC2A 1243 93% .

DOC2B 951 51% .

DOCK1 5806 99% .

DOCK10 6785 98% .

DOCK11 6446 98% .

DOCK2 5701 99% .

DOCK3 6305 98% .

DOCK4 6119 100% .

DOCK5 5965 100%DOCK5 5965 100% .

DOCK6 6403 98% .

DOCK7 6535 99% .

DOCK8 7516 99% Autosomal Recessive Hyper IgE Syndrome

DOCK9 6872 98% .

DOHH 925 52% .

DOK1 1466 100% .

DOK2 1259 97% .

DOK3 1867 89% .

DOK4 1013 100% .

DOK5 953 100% .

DOK6 1028 100% .

DOK7 1543 90% Congenital Myasthenic Syndromes

DOK7 1543 90% DOK7‐Related Congenital Myasthenic Syndrome





DOK7 1543 90% DOK7‐Related Fetal Akinesia Deformation Sequence

DOLK 1621 100% Congenital Disorders of Glycosylation

DOLK 1621 100% DOLK‐CDG (CDG‐Im)

DOLPP1 749 100% .

DOM3Z 1305 98% .

DONSON 1741 86% .

DOPEY1 7697 100% .

DOPEY2 7041 100% .

DOT1L 4726 97% .

DPAGT1 1337 100% Congenital Disorders of Glycosylation

DPAGT1 1337 100% DPAGT1‐CDG (CDG‐Ij)

DPCD 636 99% .

DPCR1 4205 84% .

DPEP1 1276 100% .

DPEP2 1501 99% .

DPEP3 1582 94% .

DPF1 1323 97% .

DPF2 1220 100% .

DPF3 1110 100%DPF3 1110 100% .

DPH1 1486 96% .

DPH2 1494 99% .

DPH3 261 100% .

DPH3P1 1 0% .

DPH5 887 100% .

DPM1 819 100% Congenital Disorders of Glycosylation

DPM1 819 100% DPM1‐CDG (CDG‐Ie)

DPM2 468 100% .

DPM3 373 100% Congenital Disorders of Glycosylation

DPM3 373 100% DPM3‐CDG (CDG‐Io)

DPP10 2666 96% .

DPP3 2345 100% .

DPP4 2409 100% .





DPP6 2818 97% .

DPP7 1601 86% .

DPP8 2777 100% .

DPP9 2794 100% .

DPPA2 925 100% .

DPPA3 496 100% .

DPPA4 943 100% .

DPPA5 363 100% .

DPRX 588 100% .

DPT 622 100% .

DPY19L1 2116 96% .

DPY19L2 2365 97% .

DPY19L3 2307 100% .

DPY19L4 2249 99% .

DPY30 316 100% .

DPYD 3213 100% Hereditary Thymine‐Uraciluria

DPYS 1596 83% Dihydropyrimidinase Deficiency

DPYSL2 2133 83% .

DPYSL3 2154 86%DPYSL3 2154 86% .

DPYSL4 1775 99% .

DPYSL5 1743 100% .

DQX1 2230 100% .

DR1 543 100% .

DRAM1 745 86% .

DRAM2 829 100% .

DRAP1 667 94% .

DRD1 1345 100% .

DRD2 1360 100% Myoclonus‐Dystonia

DRD3 1227 100% Hereditary Essential Tremor

DRD4 1276 62% .

DRD5 1438 100% .

DRG1 1140 100% .





DRG2 1147 94% .

DRGX 831 100% .

DROSHA 4261 100% .

DRP2 2970 98% .

DSC1 2789 100% .

DSC2 2812 97% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant

DSC2 2812 97% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy11

DSC3 2786 98% .

DSCAM 6212 100% .

DSCAML1 6474 99% .

DSCC1 1218 92% .

DSCR3 926 100% .

DSCR4 369 100% .

DSCR6 589 82% .

DSE 2897 98% .

DSEL 3673 100% .

DSG1 3210 100% .

DSG2 3417 99% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant

DSG2 3417 99% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy10DSG2 3417 99% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy10

DSG2 3417 99% DSG2‐Related Dilated Cardiomyopathy

DSG3 3064 100% .

DSG4 3308 100% Localized Autosomal Recessive Hypotrichosis

DSN1 1111 100% .

DSP 8712 100% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8

DSP 8712 100% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant

DSP 8712 100% Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma

DSP 8712 100% DSP‐Related Ectodermal Dysplasia/Skin Fragility Syndrome

DSP 8712 100% Ectodermal Dysplasia/Skin Fragility Syndrome

DSP 8712 100% Epidermolysis Bullosa, Lethal Acantholytic

DSP 8712 100% Skin Fragility‐Woolly Hair Syndrome

DSPP 3922 46% Dentin Dysplasia, Type II

DSPP 3922 46% Dentinogenesis Imperfecta 1





DSPP 3922 46% Dentinogenesis Imperfecta, Shields Type III

DST 20675 100% .

DSTN 514 99% .

DSTYK 2842 100% .

DTD1 650 93% .

DTHD1 2762 76% .

DTL 2253 100% .

DTNA 2501 96% Familial Isolated Noncompaction of Left Ventricular Myocardium

DTNB 1960 100% .

DTNBP1 1201 100% Hermansky‐Pudlak Syndrome

DTNBP1 1201 100% Hermansky‐Pudlak Syndrome 7

DTWD1 931 100% .

DTWD2 923 100% .

DTX1 1899 81% .

DTX2 1909 96% .

DTX3 1088 100% .

DTX3L 2243 100% .

DTX4 1896 100% .

DTYMK 659 93%DTYMK 659 93% .

DUOX1 4931 95% .

DUOX2 4783 93% Congenital Hypothyroidism

DUOX2 4783 93% Congenital Hypothyroidism, DUOX2‐Related

DUOXA1 1615 100% .

DUOXA2 1348 100% .

DUPD1 675 100% .

DUS1L 1474 100% .

DUS2L 1542 100% .

DUS3L 2005 99% .

DUS4L 982 100% .

DUSP1 1120 77% .

DUSP10 1461 100% .

DUSP11 1170 100% .





DUSP12 1047 100% .

DUSP13 1162 92% .

DUSP14 601 100% .

DUSP15 736 79% .

DUSP16 2022 100% .

DUSP18 571 100% .

DUSP19 670 100% .

DUSP2 961 63% .

DUSP21 577 100% .

DUSP22 697 100% .

DUSP23 461 44% .

DUSP26 648 100% .

DUSP27 3497 100% .

DUSP28 539 82% .

DUSP3 570 80% .

DUSP4 1365 99% .

DUSP5 1171 100% .

DUSP6 1158 100% .

DUSP7 1349 85%DUSP7 1349 85% .

DUSP8 1902 58% .

DUSP9 1167 71% .

DUT 803 82% .

DUX2 7144 0% .

DUX4 2755 0% .

DUX4L2 7143 0% .

DUX4L3 8728 0% .

DUX4L4 5782 8% .

DUX4L5 8728 0% .

DUX4L6 8728 0% .

DUX4L7 4 0% .

DUXA 639 100% .

DVL1 2148 92% .





DVL2 2271 100% .

DVL3 2306 100% .

DYDC1 609 100% .

DYDC2 577 100% .

DYM 2074 100% Dyggve‐Melchior‐Clausen Syndrome

DYM 2074 100% Smith‐McCort Dysplasia

DYNC1H1 14253 100% .

DYNC1I1 2002 100% .

DYNC1I2 2039 100% .

DYNC1LI1 1624 99% .

DYNC1LI2 1531 100% .

DYNC2H1 13305 99% Asphyxiating Thoracic Dystrophy 3

DYNC2H1 13305 99% Short Rib Polydactyly Syndrome, Verma‐Naumoff Type

DYNC2LI1 1222 100% .

DYNLL1 278 100% .

DYNLL2 278 100% .

DYNLRB1 426 100% .

DYNLRB2 307 100% .

DYNLT1 588 100%DYNLT1 588 100% .

DYNLT3 371 91% .

DYRK1A 2461 100% .

DYRK1B 1930 88% .

DYRK2 1818 100% .

DYRK3 1800 96% .

DYRK4 1607 100% .

DYSF 6722 97% Dysferlinopathy

DYSF 6722 97% Limb‐Girdle Muscular Dystrophies, Autosomal Recessive

DYTN 1785 100% .

DYX1C1 1402 100% .

DZANK1 2361 100% .

DZIP1 2818 98% .

DZIP1L 2568 100% .





DZIP3 3751 100% .

E2F1 1343 79% .

E2F2 1342 99% .

E2F3 1427 100% .

E2F4 1282 95% .

E2F5 1076 91% .

E2F6 874 96% .

E2F7 2784 100% .

E2F8 2652 100% .

E4F1 2501 95% .

EAF1 831 87% .

EAF2 807 100% .

EAPP 882 100% .

EARS2 2283 100% .

EBAG9 666 100% .

EBF1 1840 95% .

EBF2 1792 97% .

EBF3 1855 100% .

EBF4 2192 57%EBF4 2192 57% .

EBI3 710 100% .

EBLN1 1 0% .

EBLN2 1 0% .

EBNA1BP2 958 100% .

EBP 709 98% Chondrodysplasia Punctata 2, X‐Linked Dominant

EBPL 637 99% .

ECD 2090 95% .

ECE1 2540 96% ECE1‐Related Hirschsprung Disease

ECE1 2540 96% Hirschsprung Disease

ECE2 3346 99% .

ECEL1 2396 87% .

ECH1 1027 98% .

ECHDC1 970 100% .





ECHDC2 919 98% .

ECHDC3 1091 72% .

ECHS1 905 91% .

ECI1 937 84% .

ECI2 1307 100% .

ECM1 1750 100% .

ECM2 2151 100% .

ECSCR 347 53% .

ECSIT 1324 92% .

ECT2 2744 100% .

ECT2L 2795 100% .

EDA 1245 100% Hypohidrotic Ectodermal Dysplasia

EDA 1245 100% Hypohidrotic Ectodermal Dysplasia, X‐Linked

EDA 1245 100% Tooth Agenesis, Selective, X‐Linked, 1

EDA2R 981 98% .

EDAR 1483 100% Hypohidrotic Ectodermal Dysplasia

EDAR 1483 100% Hypohidrotic Ectodermal Dysplasia, Autosomal

EDARADD 707 98% Hypohidrotic Ectodermal Dysplasia

EDARADD 707 98% Hypohidrotic Ectodermal Dysplasia AutosomalEDARADD 707 98% Hypohidrotic Ectodermal Dysplasia, Autosomal

EDC3 1551 100% .

EDC4 4322 98% .

EDDM3A 448 100% .

EDDM3B 448 100% .

EDEM1 2081 96% .

EDEM2 1781 100% .

EDEM3 2879 100% .

EDF1 502 100% .

EDIL3 1487 100% .

EDN1 659 100% .

EDN2 557 90% .

EDN3 776 100% EDN3‐Related Hirschsprung Disease

EDN3 776 100% Hirschsprung Disease





EDN3 776 100% Waardenburg Syndrome Type IVB

EDNRA 1312 100% .

EDNRB 1752 100% EDNRB‐Related Hirschsprung Disease

EDNRB 1752 100% Hirschsprung Disease

EDNRB 1752 100% Waardenburg Syndrome Type IVA

EEA1 4352 100% .

EED 1378 100% .

EEF1A1 1430 100% .

EEF1A2 1558 83% .

EEF1B2 733 100% .

EEF1D 1976 100% .

EEF1E1 650 94% .

EEF1G 1354 100% .

EEF2 2637 96% .

EEF2K 2246 100% .

EEFSEC 1819 94% .

EEPD1 1738 100% .

EFCAB1 660 100% .

EFCAB11 516 100%EFCAB11 516 100% .

EFCAB2 846 62% .

EFCAB3 1521 90% .

EFCAB4A 1926 69% .

EFCAB4B 2334 75% .

EFCAB5 4771 96% .

EFCAB6 4665 100% .

EFCAB7 1942 100% .

EFCAB9 610 100% .

EFEMP1 1522 100% Doyne Honeycomb Retinal Dystrophy

EFEMP2 1372 89% EFEMP2‐Related Cutis Laxa

EFEMP2 1372 89% FBLN4 (EFEMP2)‐Related Cutis Laxa

EFHA1 1353 99% .

EFHA2 1649 87% .





EFHB 2701 100% .

EFHC1 2082 100% EFHC1‐Related Juvenile Myoclonic Epilepsy

EFHC1 2082 100% Juvenile Myoclonic Epilepsy

EFHC2 2432 100% .

EFHD1 754 85% .

EFHD2 739 93% .

EFNA1 638 100% .

EFNA2 658 78% .

EFNA3 737 84% .

EFNA4 801 91% .

EFNA5 707 100% .

EFNB1 1061 89% Craniofrontonasal Syndrome

EFNB2 1022 100% .

EFNB3 1043 98% .

EFR3A 2560 99% .

EFR3B 2592 89% .

EFS 1710 100% .

EFTUD1 3439 100% .

EFTUD2 3027 100%EFTUD2 3027 100% .

EGF 3720 100% .

EGFL6 1713 100% .

EGFL7 854 84% .

EGFL8 990 95% .

EGFLAM 3160 99% .

EGFR 4149 99% Lung Cancer

EGFR 4149 99% Lung Cancer, EGFR‐Related

EGLN1 1301 91% .

EGLN2 1601 95% .

EGLN3 740 100% .

EGR1 1640 100% .

EGR2 1439 100% Charcot‐Marie‐Tooth Neuropathy Type 1

EGR2 1439 100% Charcot‐Marie‐Tooth Neuropathy Type 1D





EGR2 1439 100% Charcot‐Marie‐Tooth Neuropathy Type 4

EGR2 1439 100% Charcot‐Marie‐Tooth Neuropathy Type 4E

EGR3 1173 100% .

EGR4 1469 99% .

EHBP1 3792 99% .

EHBP1L1 4648 92% .

EHD1 1648 100% .

EHD2 1652 100% .

EHD3 1632 100% .

EHD4 1650 100% .

EHF 936 100% .

EHHADH 2253 100% .

EHMT1 4059 98% Kleefstra Syndrome

EHMT2 4158 94% .

EI24 1115 100% .

EID1 1 0% .

EID2 715 100% .

EID2B 490 100% .

EID3 1 0%EID3 1 0% .

EIF1 358 100% .

EIF1AD 518 100% .

EIF1AX 463 96% .

EIF1AY 463 94% .

EIF1B 358 100% .

EIF2A 1816 100% .

EIF2AK1 1953 100% .

EIF2AK2 1716 100% .

EIF2AK3 3419 96% Multiple Epiphyseal Dysplasia with Early‐Onset Diabetes Mellitus

EIF2AK4 5106 100% .

EIF2B1 1141 100% Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter

EIF2B1 1141 100% EIF2B1‐Related Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter













EIF2C1 2650 100% .

EIF2C2 2656 99% .

EIF2C3 2663 100% .

EIF2C4 2658 99% .

EIF2D 1815 100% .

EIF2S1 1095 100% .

EIF2S2 1038 100% .

EIF2S3 1541 100% .

EIF3A 4237 100% .

EIF3B 2531 86% .

EIF3C 5647 9% .

EIF3CL 5647 9%EIF3CL 5647 9% .

EIF3D 1797 100% .

EIF3E 1390 100% .

EIF3F 1151 100% .

EIF3G 1076 100% .

EIF3H 1091 100% .

EIF3I 1022 100% .

EIF3J 809 99% .

EIF3K 689 100% .

EIF3L 1928 100% .

EIF3M 1169 100% .

EIF4A1 1409 100% .

EIF4A2 1457 100% .

EIF4A3 1284 100% .





EIF4B 1911 100% .

EIF4E 861 83% .

EIF4E1B 758 99% .

EIF4E2 803 99% .

EIF4E3 703 73% .

EIF4EBP1 369 61% .

EIF4EBP2 375 100% .

EIF4EBP3 315 66% .

EIF4ENIF1 3033 100% .

EIF4G1 4989 99% .

EIF4G2 2894 100% .

EIF4G3 5171 100% .

EIF4H 775 100% .

EIF5 1336 100% .

EIF5A 575 100% .

EIF5A2 478 100% .

EIF5AL1 1 0% .

EIF5B 3759 100% .

EIF6 877 100%EIF6 877 100% .

ELAC1 1104 100% .

ELAC2 2715 96% Prostate Cancer

ELANE 824 99% Cyclic Neutropenia

ELANE 824 99% ELANE‐Related Neutropenia

ELAVL1 1017 100% .

ELAVL2 1116 100% .

ELAVL3 1132 100% .

ELAVL4 1249 100% .

ELF1 1892 100% .

ELF2 1876 100% .

ELF3 1148 100% .

ELF4 2024 100% .

ELF5 826 100% .





ELFN1 1 0% .

ELFN2 2467 100% .

ELK1 1307 90% .

ELK3 1240 100% .

ELK4 1450 100% .

ELL 1914 94% .

ELL2 2070 100% .

ELL3 1301 100% .

ELMO1 2337 100% .

ELMO2 2267 100% .

ELMO3 2402 100% .

ELMOD1 1049 100% .

ELMOD2 914 100% .

ELMOD3 1498 100% .

ELN 2514 100% ELN‐Related Cutis Laxa

ELN 2514 100% Supravalvular Aortic Stenosis

ELN 2514 100% Williams Syndrome

ELOF1 264 100% .

ELOVL1 868 100%ELOVL1 868 100% .

ELOVL2 923 99% .

ELOVL3 829 100% .

ELOVL4 969 100% Stargardt Disease 3

ELOVL5 1226 93% .

ELOVL6 814 100% .

ELOVL7 874 100% .

ELP2 2768 93% .

ELP3 1704 100% .

ELP4 1344 100% .

ELSPBP1 692 100% .

ELTD1 2133 99% .

EMB 1020 89% .

EMCN 830 100% .





EMD 789 97% EMD‐Related Emery‐Dreifuss Muscular Dystrophy, X‐Linked

EMD 789 97% Emery‐Dreifuss Muscular Dystrophy

EME1 1784 100% .

EME2 1413 87% .

EMG1 772 100% .

EMID1 1394 80% .

EMID2 1377 88% .

EMILIN1 3098 93% .

EMILIN2 3339 82% .

EMILIN3 2317 93% .

EML1 2597 97% .

EML2 2031 99% .

EML3 3031 99% .

EML4 3189 100% .

EML5 6097 98% .

EML6 6041 100% .

EMP1 490 100% .

EMP2 520 100% .

EMP3 508 100%EMP3 508 100% .

EMR1 2848 100% .

EMR2 2638 99% .

EMR3 2023 100% .

EMX1 885 70% .

EMX2 771 94% Familial Schizencephaly

EN1 1187 79% .

EN2 1010 51% .

ENAH 2520 95% .

ENAM 3461 100% Amelogenesis Imperfecta, Type IB

ENAM 3461 100% Amelogenesis Imperfecta, Type IB (319274)

ENAM 3461 100% Amelogenesis Imperfecta, Type IC

ENC1 1774 100% .

ENDOD1 1511 88% .





ENDOG 906 45% .

ENDOU 1273 88% .

ENDOV 1036 100% .

ENG 2063 92% ENG‐Related Hereditary Hemorrhagic Telangiectasia

ENG 2063 92% ENG‐Related Juvenile Polyposis

ENG 2063 92% Hereditary Hemorrhagic Telangiectasia

ENGASE 2288 96% .

ENHO 235 100% .

ENKUR 799 100% .

ENO1 1349 100% .

ENO2 1349 100% .

ENO3 1349 100% Glycogen Storage Disease XIII

ENO4 1934 96% .

ENOPH1 810 100% .

ENOSF1 1540 85% .

ENOX1 1988 100% .

ENOX2 1885 100% .

ENPEP 2954 100% .

ENPP1 2878 92% Arterial Calcification of InfancyENPP1 2878 92% Arterial Calcification of Infancy

ENPP1 2878 92% Hypophosphatemic Rickets, Autosomal Recessive 2

ENPP2 2931 100% .

ENPP3 2833 100% .

ENPP4 1374 100% .

ENPP5 1446 100% .

ENPP6 1355 100% .

ENPP7 1397 100% .

ENSA 627 98% .

ENTHD1 1848 100% .

ENTPD1 1703 100% .

ENTPD2 1524 81% .

ENTPD3 1630 100% .

ENTPD4 1899 100% .





ENTPD5 1339 100% .

ENTPD6 1843 92% .

ENTPD7 1863 100% .

ENTPD8 1528 100% .

ENY2 326 100% .

EOMES 2142 81% .

EP300 7369 100% EP300‐Related Rubinstein‐Taybi Syndrome

EP300 7369 100% Rubinstein‐Taybi Syndrome

EP400 9580 98% .

EPAS1 2681 98% .

EPB41 2692 100% .

EPB41L1 2730 100% .

EPB41L2 3198 100% .

EPB41L3 3414 100% .

EPB41L4A 2153 100% .

EPB41L4B 3039 89% .

EPB41L5 2483 100% .

EPB42 2218 100% Spherocytosis, Type 5

EPB49 1277 98%EPB49 1277 98% .

EPC1 2571 100% .

EPC2 2480 100% .

EPCAM 1209 84% EPCAM‐Related Hereditary Non‐Polyposis Colon Cancer

EPDR1 1137 93% .

EPG5 7920 100% .

EPGN 445 100% .

EPHA1 3003 95% .

EPHA10 3133 82% .

EPHA2 3004 95% .

EPHA3 3046 100% .

EPHA4 3038 100% .

EPHA5 3193 98% .

EPHA6 3635 100% .





EPHA7 3073 100% .

EPHA8 3259 97% .

EPHB1 3019 100% .

EPHB2 3035 98% .

EPHB3 3061 96% .

EPHB4 3032 97% .

EPHB6 3290 100% .

EPHX1 1400 100% .

EPHX2 1807 98% .

EPHX3 1111 92% .

EPHX4 1117 100% .

EPM2A 1054 73% EPM2A ‐Related Lafora Disease

EPM2A 1054 73% Progressive Myoclonus Epilepsy, Lafora Type

EPM2AIP1 1828 100% .

EPN1 2112 88% .

EPN2 1962 99% .

EPN3 2116 99% .

EPO 602 98% .

EPOR 1559 86%EPOR 1559 86% .

EPPK1 951 100% .

EPRS 4741 100% .

EPS15 2808 99% .

EPS15L1 2687 99% .

EPS8 2549 100% .

EPS8L1 2401 90% .

EPS8L2 2228 84% .

EPS8L3 1857 98% .

EPSTI1 1285 100% .

EPT1 1346 100% .

EPX 2196 100% .

EPYC 993 100% .

ERAL1 1457 100% .





ERAP1 2931 100% .

ERAP2 3101 100% .

ERAS 706 95% .

ERBB2 3876 98% .

ERBB2IP 4486 97% .

ERBB3 4494 99% .

ERBB4 4039 100% .

ERC1 3423 100% .

ERC2 2922 100% .

ERCC1 1059 98% ERCC1‐Related Xeroderma Pigmentosum

ERCC1 1059 98% Xeroderma Pigmentosum








ERCC5 3670 100% Xeroderma PigmentosumERCC5 3670 100% Xeroderma Pigmentosum

ERCC6 4562 100% Age‐Related Macular Degeneration

ERCC6 4562 100% Age‐Related Macular Degeneration 5

ERCC6 4562 100% Cockayne Syndrome

ERCC6 4562 100% ERCC6‐Related Cockayne Syndrome

ERCC6L 3761 100% .

ERCC8 1279 100% Cockayne Syndrome

ERCC8 1279 100% ERCC8‐Related Cockayne Syndrome

EREG 530 100% .

ERF 1663 100% .

ERG 1590 93% .

ERGIC1 1153 98% .

ERGIC2 1214 100% .

ERGIC3 1355 100% .





ERH 331 100% .

ERI1 1078 90% .

ERI2 2502 99% .

ERI3 1056 100% .

ERICH1 1356 98% .

ERLEC1 1508 100% .

ERLIN1 1091 100% .

ERLIN2 1103 100% .

ERMAP 1468 100% .

ERMN 915 100% .

ERMP1 2775 94% .

ERN1 3022 98% .

ERN2 3013 97% .

ERO1L 1483 97% .

ERO1LB 1472 93% .

ERP27 850 100% .

ERP29 798 100% .

ERP44 1269 100% .

ERRFI1 1401 100%ERRFI1 1401 100% .

ERV3‐1 1819 88% .

ERVFRD‐1 1621 58% .

ERVMER34‐1 1 0% .

ERVV‐1 1 0% .

ERVV‐2 1 0% .

ESAM 1209 100% .

ESCO1 2559 100% .

ESCO2 1846 100% Roberts Syndrome

ESD 881 100% .

ESF1 2608 100% .

ESM1 567 100% .

ESPL1 6483 100% .

ESPN 2617 74% DFNB36 Nonsyndromic Hearing Loss and Deafness





ESPN 2617 74% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

ESPNL 3054 79% .

ESR1 1820 94% .

ESR2 1755 100% .

ESRP1 2131 99% .

ESRP2 2214 100% .

ESRRA 1296 100% .

ESRRB 1572 100% DFNB35 Nonsyndromic Hearing Loss and Deafness

ESRRB 1572 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

ESRRG 1501 95% .

ESX1 1237 97% .

ESYT1 3469 100% .

ESYT2 2800 86% .

ESYT3 2775 98% .

ETAA1 2805 98% .

ETF1 1354 100% .

ETFA 1050 96% Multiple Acyl‐CoA Dehydrogenase Deficiency

ETFB 1122 100% Multiple Acyl‐CoA Dehydrogenase Deficiency

ETFDH 1906 100% Multiple Acyl CoA Dehydrogenase DeficiencyETFDH 1906 100% Multiple Acyl‐CoA Dehydrogenase Deficiency

ETHE1 816 92% Ethylmalonic Encephalopathy

ETNK1 1489 99% .

ETNK2 1299 80% .

ETS1 1584 100% .

ETS2 1448 100% .

ETV1 1552 100% .

ETV2 1133 99% .

ETV3 1587 100% .

ETV3L 5 0% .

ETV4 1503 95% .

ETV5 1581 100% .

ETV6 1391 100% .

ETV7 1108 91% .





EVC 3063 90% Ellis‐van Creveld Syndrome

EVC 3063 90% EVC‐Related Ellis‐van Creveld Syndrome

EVC 3063 90% Weyers Acrofacial Dysostosis

EVC2 4015 94% Ellis‐van Creveld Syndrome

EVC2 4015 94% EVC2‐Related Ellis‐van Creveld Syndrome

EVI2A 788 100% .

EVI2B 1351 100% .

EVI5 2505 100% .

EVI5L 2458 75% .

EVL 1313 100% .

EVPL 6190 98% .

EVPLL 942 95% .

EVX1 1236 96% .

EVX2 1443 78% .

EWSR1 2199 100% .

EXD1 1669 100% .

EXD2 1898 100% .

EXD3 2715 95% .

EXO1 2593 100%EXO1 2593 100% .

EXOC1 2757 100% .

EXOC2 2883 100% .

EXOC3 2433 99% .

EXOC3L1 2395 93% .

EXOC3L2 1266 97% .

EXOC3L4 2213 70% .

EXOC4 3006 100% .

EXOC5 2205 100% .

EXOC6 2597 100% .

EXOC6B 2590 100% .

EXOC7 2395 97% .

EXOC8 2182 100% .

EXOG 1131 100% .





EXOSC1 620 100% .

EXOSC10 2758 100% .

EXOSC2 918 100% .

EXOSC3 844 100% .

EXOSC4 750 93% .

EXOSC5 732 97% .

EXOSC6 823 23% .

EXOSC7 908 98% .

EXOSC8 875 99% .

EXOSC9 1441 96% .

EXPH5 5994 100% .

EXT1 2285 100% Hereditary Multiple Osteochondromas

EXT1 2285 100% Hereditary Multiple Osteochondromatosis, Type I

EXT1 2285 100% Langer‐Giedion Syndrome

EXT2 2352 100% Hereditary Multiple Osteochondromas

EXT2 2352 100% Hereditary Multiple Osteochondromatosis, Type II

EXTL1 2075 97% .

EXTL2 1009 100% .

EXTL3 2780 100%EXTL3 2780 100% .

EYA1 1875 100% Branchiootorenal Spectrum Disorders

EYA1 1875 100% EYA1‐Related Branchiootorenal Spectrum Disorders

EYA1 1875 100% Otofaciocervical Syndrome

EYA2 1692 99% .

EYA3 1790 100% .

EYA4 2119 100% DFNA10 Nonsyndromic Hearing Loss and Deafness

EYA4 2119 100% Dilated Cardiomyopathy

EYA4 2119 100% EYA4‐Related Dilated Cardiomyopathy

EYA4 2119 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

EYS 9744 68% EYS‐Related Retinitis Pigmentosa

EYS 9744 68% Retinitis Pigmentosa, Autosomal Recessive

EZH1 2329 99% .

EZH2 2332 100% .





EZR 1813 100% .

F10 1499 100% Factor X Deficiency

F11 1939 100% Factor XI Deficiency

F11R 940 100% .

F12 1904 95% Factor XII Deficiency

F12 1904 95% Hereditary Angioedema Type III

F13A1 2323 100% Factor XIII Subunit A Deficiency

F13B 2034 100% Factor XIII Subunit B Deficiency

F2 1925 100% Prothrombin Deficiency

F2 1925 100% Prothrombin‐Related Thrombophilia

F2R 1286 98% .

F2RL1 1202 100% .

F2RL2 1133 100% .

F2RL3 1166 98% .

F3 912 99% .

F5 6790 100% Budd‐Chiari Syndrome

F5 6790 100% F5‐Related Budd‐Chiari Syndrome

F5 6790 100% Factor V Cambridge Thrombophilia

F5 6790 100% Factor V DeficiencyF5 6790 100% Factor V Deficiency

F5 6790 100% Factor V Leiden Thrombophilia

F5 6790 100% Factor V R2 Mutation Thrombophilia

F7 1449 88% Factor VII Deficiency

F8 7188 100% Hemophilia A

F8A1 3360 6% .

F8A2 3360 6% .

F8A3 3360 6% .

F9 1418 100% Hemophilia B

FA2H 1147 82% Fatty Acid Hydroxylase‐Associated Neurodegeneration

FAAH 1800 86% .

FAAH2 1643 100% .

FABP1 442 100% .

FABP12 439 100% .





FABP2 415 100% .

FABP3 418 100% .

FABP4 415 100% .

FABP5 424 89% .

FABP6 558 100% .

FABP7 568 100% .

FABP9 415 100% .

FADD 635 100% .

FADS1 1554 84% .

FADS2 1383 100% .

FADS3 1721 83% .

FADS6 1199 99% .

FAF1 2029 96% .

FAF2 1382 98% .

FAH 1316 100% Tyrosinemia Type I

FAHD1 982 88% .

FAHD2A 973 100% .

FAHD2B 973 100% .

FAIM 710 100%FAIM 710 100% .

FAIM2 999 98% .

FAIM3 1205 83% .

FAM100A 546 98% .

FAM100B 507 74% .

FAM101A 452 100% .

FAM101B 443 100% .

FAM102A 1199 94% .

FAM102B 1127 100% .

FAM103A1 365 100% .

FAM104A 640 100% .

FAM104B 504 94% .

FAM105A 1103 94% .

FAM105B 1104 89% .





FAM107A 533 100% .

FAM107B 941 100% .

FAM108A1 1326 88% .

FAM108B1 910 100% .

FAM108C1 1002 74% .

FAM109A 912 92% .

FAM109B 784 100% .

FAM110A 892 93% .

FAM110B 1117 100% .

FAM110C 974 85% .

FAM110D 820 29% .

FAM111A 1844 100% .

FAM111B 2213 100% .

FAM113A 1393 100% .

FAM113B 1313 100% .

FAM114A1 1744 100% .

FAM114A2 1591 100% .

FAM115A 2802 41% .

FAM115C 3140 61%FAM115C 3140 61% .

FAM116A 1949 98% .

FAM116B 1930 90% .

FAM117A 1394 93% .

FAM117B 1826 67% .

FAM118A 1115 100% .

FAM118B 1084 100% .

FAM120A 3951 96% .

FAM120AOS 1014 95% .

FAM120B 2769 99% .

FAM120C 3377 92% .

FAM122A 868 100% .

FAM122B 850 100% .

FAM122C 822 100% .





FAM123A 2020 92% .

FAM123B 3412 100% Osteopathia Striata with Cranial Sclerosis

FAM123C 2590 100% .

FAM124A 1848 90% .

FAM124B 1467 94% .

FAM125A 858 100% .

FAM125B 1004 84% .

FAM126A 1618 100% Hypomyelination and Congenital Cataract

FAM126B 1633 100% .

FAM127A 346 100% .

FAM127B 410 100% .

FAM127C 346 100% .

FAM129A 2844 98% .

FAM129B 2317 97% .

FAM129C 2433 87% .

FAM131A 1357 100% .

FAM131B 1111 96% .

FAM131C 871 76% .

FAM132A 941 67%FAM132A 941 67% .

FAM133A 751 100% .

FAM133B 788 100% .

FAM134A 1668 83% .

FAM134B 1569 93% Hereditary Sensory and Autonomic Neuropathy Type II

FAM134B 1569 93% Hereditary Sensory and Autonomic Neuropathy Type IIB

FAM134C 1437 100% .

FAM135A 4774 100% .

FAM135B 4297 100% .

FAM136A 946 99% .

FAM13A 3337 100% .

FAM13B 2902 100% .

FAM13C 2076 100% .

FAM149A 1609 100% .





FAM149B1 1814 98% .

FAM150A 406 53% .

FAM150B 479 47% .

FAM151A 1790 100% .

FAM151B 855 97% .

FAM153A 1185 81% .

FAM153B 1305 78% .

FAM154A 1441 100% .

FAM154B 1209 99% .

FAM155A 1389 100% .

FAM155B 1431 81% .

FAM156A 1292 0% .

FAM156B 1292 0% .

FAM157A 1176 20% .

FAM157B 6 0% .

FAM158A 647 100% .

FAM159A 3 0% .

FAM159B 495 100% .

FAM160A1 3167 38%FAM160A1 3167 38% .

FAM160A2 3005 100% .

FAM160B1 2407 98% .

FAM160B2 2547 98% .

FAM161A 2179 100% .

FAM161B 1980 100% .

FAM162A 647 95% .

FAM162B 505 77% .

FAM163A 512 83% .

FAM163B 509 22% .

FAM164A 1014 98% .

FAM164C 1379 100% .

FAM165B 185 100% .

FAM166A 1059 100% .





FAM166B 852 99% .

FAM167A 653 100% .

FAM167B 500 97% .

FAM168A 732 100% .

FAM168B 608 86% .

FAM169A 2061 100% .

FAM169B 602 100% .

FAM170A 1061 100% .

FAM170B 860 100% .

FAM171A1 2705 96% .

FAM171A2 2513 58% .

FAM171B 2513 100% .

FAM172A 1384 100% .

FAM173A 728 59% .

FAM173B 746 100% .

FAM174A 585 100% .

FAM174B 492 80% .

FAM175A 1266 100% .

FAM175B 1284 100%FAM175B 1284 100% .

FAM176A 467 100% .

FAM176B 506 92% .

FAM177A1 731 95% .

FAM177B 493 100% .

FAM178A 4039 100% .

FAM178B 2165 75% .

FAM179A 3136 99% .

FAM179B 5260 100% .

FAM180A 534 100% .

FAM180B 687 99% .

FAM181A 1073 100% .

FAM181B 1285 57% .

FAM183A 469 100% .





FAM184A 3510 98% .

FAM184B 3255 90% .

FAM185A 1211 98% .

FAM186A 7088 11% .

FAM186B 2710 100% .

FAM187B 1118 100% .

FAM188A 1399 100% .

FAM188B 2583 100% .

FAM189A1 1664 71% .

FAM189A2 1660 100% .

FAM189B 2188 89% .

FAM18A 670 95% .

FAM18B1 646 100% .

FAM18B2 1039 100% .

FAM18B2‐CDRT4 513 100% .

FAM190A 2775 74% .

FAM190B 3359 100% .

FAM192A 789 100% .

FAM193A 3755 100%FAM193A 3755 100% .

FAM193B 2501 88% .

FAM194A 2048 100% .

FAM194B 2143 100% .

FAM195A 503 54% .

FAM195B 310 6% .

FAM196A 3 0% .

FAM196B 1620 100% .

FAM198A 1943 96% .

FAM198B 1767 100% .

FAM199X 1191 100% .

FAM19A1 422 100% .

FAM19A2 412 100% .

FAM19A3 535 100% .





FAM19A4 443 100% .

FAM19A5 510 100% .

FAM200A 1726 15% .

FAM200B 1978 0% .

FAM203A 2394 5% .

FAM204A 730 100% .

FAM205A 4024 97% .

FAM206A 570 99% .

FAM207A 717 71% .

FAM208A 5169 76% .

FAM208B 7365 100% .

FAM209A 524 100% .

FAM209B 524 100% .

FAM20A 1695 95% .

FAM20B 1258 100% .

FAM20C 1795 36% .

FAM210A 831 100% .

FAM210B 591 68% .

FAM211A 1051 75%FAM211A 1051 75% .

FAM211B 964 81% .

FAM212A 872 95% .

FAM212B 918 100% .

FAM213A 388 99% .

FAM213B 769 59% .

FAM214A 3282 100% .

FAM214B 1645 97% .

FAM21A 4168 58% .

FAM21B 7774 48% .

FAM21C 4103 72% .

FAM22A 2665 55% .

FAM22D 1917 53% .

FAM22F 2299 95% .





FAM22G 2297 97% .

FAM24A 326 100% .

FAM24B 293 100% .

FAM25A 301 100% .

FAM25B 903 28% .

FAM25C 903 28% .

FAM25G 903 28% .

FAM26D 391 100% .

FAM26E 938 100% .

FAM26F 956 45% .

FAM32A 355 94% .

FAM35A 2536 100% .

FAM36A 373 88% .

FAM3A 750 89% .

FAM3B 828 97% .

FAM3C 720 100% .

FAM3D 787 100% .

FAM40A 2598 93% .

FAM40B 2632 94%FAM40B 2632 94% .

FAM43A 1276 72% .

FAM43B 994 44% .

FAM45A 1110 95% .

FAM46A 1374 100% .

FAM46B 1286 97% .

FAM46C 1180 100% .

FAM46D 1174 100% .

FAM47A 2380 100% .

FAM47B 1942 100% .

FAM47C 3112 100% .

FAM47E 1344 66% .

FAM47E‐STBD1 1956 81% .

FAM48A 2681 99% .





FAM48B1 1 0% .

FAM48B2 1 0% .

FAM49A 1012 100% .

FAM49B 1016 100% .

FAM50A 1072 97% .

FAM50B 982 100% .

FAM53A 1213 93% .

FAM53B 1285 100% .

FAM53C 1195 100% .

FAM54A 1186 100% .

FAM54B 1002 100% .

FAM55A 1561 100% .

FAM55B 1704 100% .

FAM55C 1700 100% .

FAM55D 1655 100% .

FAM57A 1118 59% .

FAM57B 845 87% .

FAM58A 967 95% Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations

FAM58BP 1 0%FAM58BP 1 0% .

FAM59A 2655 99% .

FAM59B 2822 69% .

FAM5B 2380 100% .

FAM5C 2329 100% .

FAM60A 686 100% .

FAM63A 1594 96% .

FAM63B 1902 100% .

FAM64A 798 100% .

FAM65A 3843 98% .

FAM65B 3305 100% .

FAM65C 2925 95% .

FAM69A 1308 100% .

FAM69B 1316 87% .





FAM69C 1276 75% .

FAM70A 1090 98% .

FAM70B 1236 94% .

FAM71A 1789 100% .

FAM71B 1826 100% .

FAM71C 734 100% .

FAM71D 6 0% .

FAM71E1 760 100% .

FAM71E2 2903 7% .

FAM71F1 1065 100% .

FAM71F2 950 100% .

FAM72A 466 77% .

FAM72B 466 100% .

FAM72D 466 73% .

FAM73A 2003 98% .

FAM73B 2389 97% .

FAM75A1 8204 31% .

FAM75A2 8204 31% .

FAM75A3 4060 56%FAM75A3 4060 56% .

FAM75A4 4089 6% .

FAM75A5 12209 10% .

FAM75A6 4048 89% .

FAM75A7 12209 10% .

FAM75C1 4 0% .

FAM75C2 4 0% .

FAM75D1 4747 100% .

FAM75D3 4 0% .

FAM75D4 4 0% .

FAM76A 1066 82% .

FAM76B 1060 99% .

FAM78A 860 100% .

FAM78B 794 99% .





FAM81A 1316 100% .

FAM81B 1399 100% .

FAM82A1 2465 100% .

FAM82A2 1461 100% .

FAM82B 985 100% .

FAM83A 1396 97% .

FAM83B 3052 100% .

FAM83C 2260 98% .

FAM83D 1864 86% .

FAM83E 1457 97% .

FAM83F 1523 72% .

FAM83G 2496 100% .

FAM83H 3556 82% Amelogenesis Imperfecta, Type III

FAM84A 1238 98% .

FAM84B 937 100% .

FAM86A 1025 100% .

FAM86B1 919 77% .

FAM86B2 1167 61% .

FAM86C1 675 94%FAM86C1 675 94% .

FAM89A 563 49% .

FAM89B 588 50% .

FAM8A1 1262 96% .

FAM90A1 1411 100% .

FAM90A10 1411 50% .

FAM90A13 2826 14% .

FAM90A14 2826 14% .

FAM90A18 2822 0% .

FAM90A19 2822 0% .

FAM90A20 1411 92% .

FAM90A5 1411 9% .

FAM90A7 1744 2% .

FAM90A8 1411 11% .





FAM90A9 1411 20% .

FAM91A1 2613 100% .

FAM92A1 929 97% .

FAM92B 941 100% .

FAM96A 503 100% .

FAM96B 514 100% .

FAM98A 1642 100% .

FAM98B 1430 72% .

FAM98C 1082 78% .

FAM9A 1031 100% .

FAM9B 724 100% .

FAM9C 525 100% .

FAN1 3131 100% .

FANCA 4545 94% FANCA‐Related Fanconi Anemia

FANCA 4545 94% Fanconi Anemia

FANCB 2612 100% FANCB‐Related Fanconi Anemia

FANCB 2612 100% Fanconi Anemia

FANCB 2612 100% VACTERL Association with Hydrocephalus, X‐linked

FANCC 1734 100% FANCC Related Fanconi AnemiaFANCC 1734 100% FANCC‐Related Fanconi Anemia

FANCC 1734 100% Fanconi Anemia

FANCD2 4694 100% FANCD2‐Related Fanconi Anemia

FANCD2 4694 100% Fanconi Anemia

FANCE 1651 85% FANCE‐Related Fanconi Anemia

FANCE 1651 85% Fanconi Anemia

FANCF 1129 100% FANCF‐Related Fanconi Anemia

FANCF 1129 100% Fanconi Anemia

FANCG 1925 100% FANCG‐Related Fanconi Anemia

FANCG 1925 100% Fanconi Anemia

FANCI 4135 100% FANCI‐Related Fanconi Anemia

FANCI 4135 100% Fanconi Anemia

FANCL 1203 100% FANCL‐Related Fanconi Anemia

FANCL 1203 100% Fanconi Anemia





FANCM 6239 100% FANCM‐Related Fanconi Anemia

FANCM 6239 100% Fanconi Anemia

FANK1 1086 100% .

FAP 2387 100% .

FAR1 1643 100% .

FAR2 1592 100% .

FARP1 3744 100% .

FARP2 3466 100% .

FARS2 1380 100% .

FARSA 1579 95% .

FARSB 1838 100% .

FAS 1063 100% Autoimmune Lymphoproliferative Syndrome

FAS 1063 100% FAS‐Related Autoimmune Lymphoproliferative Syndrome

FASLG 862 100% Autoimmune Lymphoproliferative Syndrome

FASLG 862 100% FASLG‐Related Autoimmune Lymphoproliferative Syndrome

FASN 7704 95% .

FASTK 1690 95% .

FASTKD1 2627 100% .

FASTKD2 2177 100% Mitochondrial Respiratory Chain Complex IV Deficiency (nuclear genes)FASTKD2 2177 100% Mitochondrial Respiratory Chain Complex IV Deficiency (nuclear genes)

FASTKD3 2134 100% .

FASTKD5 2299 100% .

FAT1 13880 100% .

FAT2 13142 100% .

FAT3 13774 100% .

FAT4 15073 100% .

FATE1 572 81% .

FAU 420 100% .

FBF1 3567 100% .

FBL 1002 100% .

FBLIM1 1385 95% .

FBLN1 2660 92% .

FBLN2 3764 100% .





FBLN5 1559 98% Age‐Related Macular Degeneration

FBLN5 1559 98% Age‐Related Macular Degeneration 3

FBLN5 1559 98% FBLN5‐Related Cutis Laxa

FBLN7 1386 96% .

FBN1 8876 100% Ectopia Lentis, Isolated

FBN1 8876 100% FBN1‐Related Thoracic Aortic Aneurysms and Aortic Dissections

FBN1 8876 100% FBN1‐Related Weill‐Marchesani Syndrome

FBN1 8876 100% Marfan Syndrome

FBN1 8876 100% MASS Syndrome

FBN1 8876 100% Stiff Skin Syndrome

FBN1 8876 100% Thoracic Aortic Aneurysms and Aortic Dissections

FBN2 9049 100% Congenital Contractural Arachnodactyly

FBN3 8682 96% .

FBP1 1045 99% Fructose 1,6 Bisphosphatase Deficiency

FBP2 1048 100% .

FBRS 1630 99% .

FBRSL1 3206 17% .

FBXL12 993 92% .

FBXL13 2283 100%FBXL13 2283 100% .

FBXL14 1265 100% .

FBXL15 1002 93% .

FBXL16 1460 83% .

FBXL17 1116 100% .

FBXL18 2177 99% .

FBXL19 2129 95% .

FBXL2 1351 100% .

FBXL20 1371 100% .

FBXL21 1321 100% .

FBXL22 734 99% .

FBXL3 1303 100% .

FBXL4 1894 100% .

FBXL5 2120 96% .





FBXL6 1656 96% .

FBXL7 1493 100% .

FBXL8 1133 70% .

FBXO10 2911 100% .

FBXO11 2966 96% .

FBXO15 1573 85% .

FBXO16 911 100% .

FBXO17 875 69% .

FBXO18 3378 100% .

FBXO2 915 74% .

FBXO21 1935 97% .

FBXO22 1277 96% .

FBXO24 1940 96% .

FBXO25 1144 100% .

FBXO27 872 91% .

FBXO28 1127 94% .

FBXO3 1469 99% .

FBXO30 2246 100% .

FBXO31 1656 93%FBXO31 1656 93% .

FBXO32 1104 100% .

FBXO33 1684 87% .

FBXO34 2140 100% .

FBXO36 583 100% .

FBXO38 3651 100% .

FBXO39 1341 100% .

FBXO4 1218 84% .

FBXO40 2142 100% .

FBXO41 2766 76% .

FBXO42 2208 100% .

FBXO43 2147 100% .

FBXO44 820 100% .

FBXO45 873 91% .





FBXO46 1816 99% .

FBXO47 1399 100% .

FBXO48 476 100% .

FBXO5 1364 93% .

FBXO6 902 100% .

FBXO7 1646 92% .

FBXO8 980 100% .

FBXO9 1409 100% .

FBXW10 3298 99% .

FBXW11 1744 99% .

FBXW12 1488 100% .

FBXW2 1389 100% .

FBXW4 1279 90% Ectrodactyly

FBXW4 1279 90% Split‐Hand/Foot Malformation 3

FBXW5 1794 90% .

FBXW7 2584 100% .

FBXW8 1841 83% .

FBXW9 1507 94% .

FCAMR 1885 100%FCAMR 1885 100% .

FCAR 955 100% .

FCER1A 803 100% .

FCER1G 281 100% .

FCER2 1029 99% .

FCF1 629 100% .

FCGBP 16365 76% .

FCGR1A 1149 97% .

FCGR1B 872 92% .

FCGR2A 982 100% .

FCGR2B 965 79% .

FCGR2C 1000 80% .

FCGR3A 893 100% .

FCGR3B 830 96% .





FCGRT 1122 93% .

FCHO1 2774 99% .

FCHO2 2539 97% .

FCHSD1 2156 99% .

FCHSD2 2314 100% .

FCN1 1017 100% .

FCN2 1037 100% .

FCN3 940 100% .

FCRL1 1400 100% .

FCRL2 1770 100% .

FCRL3 2261 100% .

FCRL4 1775 100% .

FCRL5 3201 100% .

FCRL6 1350 100% .

FCRLA 1173 100% .

FCRLB 1305 93% .

FDCSP 270 100% .

FDFT1 1286 100% .

FDPS 1300 100%FDPS 1300 100% .

FDX1 571 67% .

FDX1L 604 98% .

FDXACB1 1895 100% .

FDXR 1747 95% .

FECH 1334 95% Erythropoietic Protoporphyria

FEM1A 2014 83% .

FEM1B 1892 100% .

FEM1C 1862 100% .

FEN1 1147 100% .

FER 2541 100% .

FER1L5 6490 47% .

FER1L6 5734 100% .

FERD3L 505 100% .





FERMT1 2090 100% Kindler Syndrome

FERMT2 2136 100% .

FERMT3 2060 100% .

FES 2595 98% .

FETUB 1181 100% .

FEV 729 69% .

FEZ1 1333 100% .

FEZ2 1200 78% .

FEZF1 1444 100% .

FEZF2 1396 99% .

FFAR1 907 75% .

FFAR2 997 100% .

FFAR3 1045 99% .

FGA 2679 99% Congenital Afibrinogenemia

FGA 2679 99% Familial Visceral Amyloidosis

FGA 2679 99% FGA‐Related Congenital Afibrinogenemia

FGA 2679 99% FGA‐Related Familial Visceral Amyloidosis

FGB 1508 100% Congenital Afibrinogenemia

FGB 1508 100% FGB Related Congenital AfibrinogenemiaFGB 1508 100% FGB‐Related Congenital Afibrinogenemia

FGD1 2958 89% Aarskog Syndrome

FGD1 2958 89% FGD1‐Related X‐linked Mental Retardation

FGD2 2847 100% .

FGD3 2362 100% .

FGD4 2537 100% Charcot‐Marie‐Tooth Neuropathy Type 4

FGD4 2537 100% Charcot‐Marie‐Tooth Neuropathy Type 4H

FGD5 4469 96% .

FGD6 4377 100% .

FGF1 482 100% .

FGF10 639 100% FGF10‐Related Lacrimo‐Auriculo‐Dento‐Digital Syndrome

FGF10 639 100% Lacrimo‐Auriculo‐Dento‐Digital Syndrome

FGF11 698 89% .

FGF12 772 100% .





FGF13 1016 100% .

FGF14 976 100% Spinocerebellar Ataxia Type27

FGF16 359 100% .

FGF17 671 100% .

FGF18 644 100% .

FGF19 663 64% .

FGF2 879 67% .

FGF20 648 73% .

FGF21 642 100% .

FGF22 525 58% .

FGF23 768 100% FGF23‐Related Familial Hyperphosphatemic Tumoral Calcinosis

FGF23 768 100% Hypophosphatemic Rickets, Dominant

FGF3 732 70% Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia

FGF4 633 55% .

FGF5 932 100% .

FGF6 639 100% .

FGF7 597 100% .

FGF8 759 79% Kallmann Syndrome

FGF8 759 79% Kallmann Syndrome 6FGF8 759 79% Kallmann Syndrome 6

FGF9 639 100% .

FGFBP1 709 100% .

FGFBP2 676 100% .

FGFBP3 781 58% .

FGFR1 2874 98% FGFR1‐Related Craniosynostosis

FGFR1 2874 98% FGFR‐Related Craniosynostosis

FGFR1 2874 98% Kallmann Syndrome

FGFR1 2874 98% Kallmann Syndrome 2

FGFR1 2874 98% Osteoglophonic Dysplasia

FGFR1 2874 98% Pfeiffer Syndrome Type 1, 2 and 3

FGFR1OP 1252 92% .

FGFR1OP2 786 100% .

FGFR2 2754 100% Apert Syndrome





FGFR2 2754 100% Beare‐Stevenson Syndrome

FGFR2 2754 100% Crouzon Syndrome


FGFR2 2754 100% FGFR2‐Related Isolated Coronal Synostosis

FGFR2 2754 100% FGFR2‐Related Lacrimo‐Auriculo‐Dento‐Digital Syndrome


FGFR2 2754 100% Jackson‐Weiss Syndrome

FGFR2 2754 100% Lacrimo‐Auriculo‐Dento‐Digital Syndrome

FGFR3 2887 82% Achondroplasia

FGFR3 2887 82% Crouzon Syndrome with Acanthosis Nigricans


FGFR3 2887 82% FGFR3‐Related Isolated Coronal Synostosis

FGFR3 2887 82% FGFR3‐Related Lacrimo‐Auriculo‐Dento‐Digital Syndrome


FGFR3 2887 82% Hypochondroplasia

FGFR3 2887 82% Lacrimo‐Auriculo‐Dento‐Digital Syndrome

FGFR3 2887 82% Muenke Syndrome

FGFR3 2887 82% Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans (SADDAN)

FGFR3 2887 82% Thanatophoric DysplasiaFGFR3 2887 82% Thanatophoric Dysplasia

FGFR3 2887 82% Thanatophoric Dysplasia Type I

FGFR3 2887 82% Thanatophoric Dysplasia Type II

FGFR4 3325 99% .

FGFRL1 1539 96% .

FGG 1487 100% Congenital Afibrinogenemia

FGG 1487 100% FGG‐Related Congenital Afibrinogenemia

FGGY 1792 100% .

FGL1 967 100% .

FGL2 1328 100% .

FGR 1634 100% .

FH 1573 91% Fumarate Hydratase Deficiency

FH 1573 91% Hereditary Leiomyomatosis and Renal Cell Cancer

FH 1573 91% Multiple Cutaneous and Uterine Leiomyomas





FHAD1 4408 99% .

FHDC1 3476 100% .

FHIT 464 100% .

FHL1 1120 100% Childhood‐Onset Reducing Body Myopathy, X‐Linked

FHL1 1120 100% Early‐Onset Severe Reducing Body Myopathy, X‐Linked

FHL1 1120 100% Emery‐Dreifuss Muscular Dystrophy

FHL1 1120 100% Familial Hemophagocytic Lymphohistiocytosis

FHL1 1120 100% Familial Hemophagocytic Lymphohistiocytosis 1

FHL1 1120 100% FHL1‐Related Emery‐Dreifuss Muscular Dystrophy, X‐Linked

FHL1 1120 100% Myopathy with Postural Muscle Atrophy, X‐Linked

FHL1 1120 100% Scapuloperoneal Myopathy, X‐Linked Dominant

FHL2 884 100% .

FHL3 863 100% .

FHL5 875 100% .

FHOD1 3583 100% .

FHOD3 4420 97% .

FIBCD1 1530 84% .

FIBIN 640 100% .

FIBP 1331 97%FIBP 1331 97% .

FICD 1385 100% .

FIG4 2816 99% Charcot‐Marie‐Tooth Neuropathy Type 4

FIG4 2816 99% Charcot‐Marie‐Tooth Neuropathy Type 4J

FIG4 2816 99% FIG4‐Related Amyotrophic Lateral Sclerosis

FIGF 1093 100% .

FIGLA 680 68% .

FIGN 2288 100% .

FIGNL1 2029 100% .

FIGNL2 1 0% .

FILIP1 3662 100% .

FILIP1L 3449 100% .

FIP1L1 1905 98% .

FIS1 686 100% .





FITM1 887 100% .

FITM2 797 99% .

FIZ1 1499 63% .

FJX1 1318 61% .

FKBP10 1789 99% FKBP10‐Related Osteogenesis Imperfecta

FKBP11 687 99% .

FKBP14 652 100% .

FKBP15 3883 100% .

FKBP1A 366 69% .

FKBP1B 388 89% .

FKBP2 449 100% .

FKBP3 703 100% .

FKBP4 1420 100% .

FKBP5 1472 100% .

FKBP6 1103 99% .

FKBP7 688 100% .

FKBP8 1274 100% .

FKBP9 1754 96% .

FKBPL 1057 100%FKBPL 1057 100% .

FKRP 1492 70% FKRP‐Related Muscle Diseases

FKRP 1492 70% FKRP‐Related Walker‐Warburg Syndrome

FKRP 1492 70% Limb‐Girdle Muscular Dystrophies, Autosomal Recessive

FKRP 1492 70% Limb‐Girdle Muscular Dystrophy Type 2I

FKRP 1492 70% Walker‐Warburg Syndrome

FKTN 1423 100% Dilated Cardiomyopathy

FKTN 1423 100% FKTN‐Related Dilated Cardiomyopathy

FKTN 1423 100% FKTN‐Related Muscle Diseases

FKTN 1423 100% Fukuyama Congenital Muscular Dystrophy

FKTN 1423 100% Limb‐Girdle Muscular Dystrophy Type 2M

FKTN 1423 100% Walker‐Warburg Syndrome

FLAD1 1943 100% .

FLCN 2140 100% Birt‐Hogg‐Dube Syndrome





FLCN 2140 100% Spontaneous Pneumothorax

FLG 12194 99% Ichthyosis Vulgaris

FLG2 7184 100% .

FLI1 1395 100% .

FLII 3931 97% .

FLJ22184 1866 24% .

FLJ23152 5 0% .

FLJ25363 5 0% .

FLJ27352 2 0% .

FLJ42280 403 100% .

FLJ43860 660 93% .

FLJ44635 2 0% .

FLJ45513 2 0% .

FLNA 8149 100% FLNA‐Related Disorders

FLNA 8149 100% FLNA‐Related X‐linked Cardiac Valvular Dysplasia

FLNA 8149 100% Otopalatodigital Spectrum Disorders

FLNA 8149 100% Otopalatodigital Syndrome, Type I

FLNA 8149 100% Otopalatodigital Syndrome, Type II

FLNA 8149 100% Periventricular Heterotopia X LinkedFLNA 8149 100% Periventricular Heterotopia, X‐Linked

FLNB 8090 99% Atelosteogenesis Type I

FLNB 8090 99% Atelosteogenesis Type III

FLNB 8090 99% Boomerang Dysplasia

FLNB 8090 99% FLNB‐Related Disorders

FLNB 8090 99% Larsen Syndrome

FLNB 8090 99% Spondylocarpotarsal Synostosis Syndrome

FLNC 8370 99% Filaminopathy

FLNC 8370 99% Myofibrillar Myopathy

FLOT1 1550 95% .

FLOT2 1331 100% .

FLRT1 2029 100% .

FLRT2 1987 100% .

FLRT3 1954 100% .





FLT1 4139 99% .

FLT3 3089 98% .

FLT3LG 736 99% .

FLT4 4390 97% Milroy Disease

FLVCR1 1708 90% .

FLVCR2 1622 100% Proliferative Vasculopathy And Hydranencephaly‐Hydrocephaly Syndrome

FLYWCH1 2775 97% .

FLYWCH2 431 100% .

FMN1 3659 100% .

FMN2 5675 90% .

FMNL1 3407 86% .

FMNL2 3383 100% .

FMNL3 3188 100% .

FMO1 1631 100% .

FMO2 1448 100% .

FMO3 1631 100% Trimethylaminuria

FMO4 1709 100% .

FMO5 1808 92% .

FMOD 1139 100%FMOD 1139 100% .

FMR1 2198 87% FMR1‐Related Disorders

FMR1 2198 87% Fragile X Syndrome

FMR1 2198 87% Fragile X‐Associated Tremor/Ataxia Syndrome

FMR1NB 788 100% .

FN1 7651 100% .

FN3K 954 89% .

FN3KRP 954 100% .

FNBP1 1949 99% .

FNBP1L 1904 100% .

FNBP4 3122 97% .

FNDC1 5777 97% .

FNDC3A 3708 100% .

FNDC3B 3715 100% .





FNDC4 729 100% .

FNDC5 459 100% .

FNDC7 2316 93% .

FNDC8 991 100% .

FNDC9 679 100% .

FNIP1 3581 100% .

FNIP2 3413 98% .

FNTA 1176 86% .

FNTB 1362 100% .

FOLH1 2498 96% .

FOLH1B 1377 100% .

FOLR1 790 100% Neurodegeneration due to Cerebral Folate Transport Deficiency

FOLR2 808 100% .

FOLR3 880 100% .

FOLR4 769 100% .

FOPNL 545 100% .

FOS 1159 100% .

FOSB 1033 95% .

FOSL1 832 88%FOSL1 832 88% .

FOSL2 1048 97% .

FOXA1 1427 91% .

FOXA2 1400 95% .

FOXA3 1061 95% .

FOXB1 982 99% .

FOXB2 1303 93% .

FOXC1 1666 64% Axenfeld‐Rieger Syndrome

FOXC1 1666 64% Peters Anomaly

FOXC2 1510 75% Hereditary Lymphedema II

FOXC2 1510 75% Lymphedema‐Distichiasis Syndrome

FOXD1 1 0% .

FOXD2 1492 51% .

FOXD3 1441 63% .





FOXD4 1324 100% .

FOXD4L1 1231 100% .

FOXD4L2 2510 0% .

FOXD4L3 1258 72% .

FOXD4L4 2510 0% .

FOXD4L5 1255 82% .

FOXD4L6 1258 43% .

FOXE1 1126 67% Athyroidal Hypothyroidism with Spiky Hair and Cleft Palate

FOXE1 1126 67% Bamforth‐Lazarus Syndrome

FOXE1 1126 67% Cleft Lip +/‐ Cleft Palate

FOXE3 964 47% Anterior Segment Mesenchymal Dysgenesis

FOXE3 964 47% Cataracts, Autosomal Dominant

FOXE3 964 47% Peters Anomaly with Cataract

FOXF1 1148 97% Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins

FOXF2 1343 75% .

FOXG1 1474 84% Rett Syndrome, Congenital Variant

FOXH1 1191 93% .

FOXI1 1145 100% .

FOXI2 965 76%FOXI2 965 76% .

FOXI3 2 0% .

FOXJ1 1274 89% .

FOXJ2 1809 100% .

FOXJ3 1980 100% .

FOXK1 2238 85% .

FOXK2 2019 96% .

FOXL1 1042 83% .

FOXL2 1135 79% Blepharophimosis, Ptosis, and Epicanthus Inversus

FOXM1 2442 100% .

FOXN1 1979 100% Alopecia and T‐Cell Immunodeficiency

FOXN2 1316 100% .

FOXN3 1497 100% .

FOXN4 1649 82% .





FOXO1 1976 80% .

FOXO3 2030 94% .

FOXO4 1530 99% .

FOXP1 2515 98% .

FOXP2 2401 100% Speech‐Language Disorder 1

FOXP3 1516 83% IPEX Syndrome

FOXP4 2107 97% .

FOXQ1 1216 47% .

FOXR1 903 93% .

FOXR2 940 100% .

FOXRED1 1505 100% .

FOXRED2 2087 97% .

FOXS1 997 100% .

FPGS 1824 88% .

FPGT 1801 100% .

FPGT‐TNNI3K 3050 100% .

FPR1 1057 100% .

FPR2 1060 100% .

FPR3 1066 100%FPR3 1066 100% .

FRA10AC1 1000 100% .

FRAS1 12433 100% FRAS1‐Related Fraser Syndrome

FRAT1 844 40% .

FRAT2 706 40% .

FREM1 6743 100% .

FREM2 9627 100% FREM2‐Related Fraser Syndrome

FREM3 6452 98% .

FRG1 813 100% .

FRG2 860 10% .

FRG2B 856 89% .

FRG2C 869 0% .

FRK 1550 100% .

FRMD1 1707 96% .





FRMD3 2057 100% .

FRMD4A 3400 98% .

FRMD4B 3202 100% .

FRMD5 1981 84% .

FRMD6 1921 100% .

FRMD7 2193 100% FRMD7‐Related Infantile Nystagmus

FRMD8 1435 97% .

FRMPD1 4797 100% .

FRMPD2 4087 97% .

FRMPD4 5377 100% .

FRRS1 1969 100% .

FRS2 1547 100% .

FRS3 1522 94% .

FRY 9337 100% .

FRYL 9434 100% .

FRZB 1002 100% .

FSBP 908 100% .

FSCB 2482 95% .

FSCN1 1520 97%FSCN1 1520 97% .

FSCN2 1571 84% FSCN2‐Related Retinitis Pigmentosa

FSCN2 1571 84% Retinitis Pigmentosa, Autosomal Dominant

FSCN3 1521 100% .

FSD1 1543 99% .

FSD1L 1742 100% .

FSD2 2298 99% .

FSHB 398 100% Isolated Follicle Stimulating Hormone Deficiency

FSHB 398 100% Isolated Follicle‐Stimulating Hormone Deficiency

FSHR 2128 100% Ovarian Dysgenesis 1

FSHR 2128 100% Ovarian Hyperstimulation Syndrome

FSIP1 1790 100% .

FSIP2 20863 100% .

FST 1065 92% .





FSTL1 967 100% .

FSTL3 812 57% .

FSTL4 2716 100% .

FSTL5 2604 100% .

FTCD 1885 76% Formiminotransferase Deficiency

FTH1 568 100% .

FTHL17 556 100% .

FTL 544 100% Hyperferritinemia Cataract Syndrome

FTL 544 100% Neuroferritinopathy

FTMT 733 100% .

FTO 1554 97% Growth Retardation, Developmental Delay, Coarse Facies, and Early Death

FTSJ1 1034 100% X‐Linked Mental Retardation 9

FTSJ2 753 99% .

FTSJ3 2624 100% .

FTSJD1 2317 100% .

FTSJD2 2602 100% .

FUBP1 2018 100% .

FUBP3 1795 98% .

FUCA1 1433 96% FucosidosisFUCA1 1433 96% Fucosidosis

FUCA2 1462 100% .

FUK 3553 91% .

FUNDC1 488 96% .

FUNDC2 590 99% .

FURIN 2445 96% .

FUS 1644 100% Amyotrophic Lateral Sclerosis

FUS 1644 100% FUS‐Related Amyotrophic Laterial Sclerosis

FUT1 1102 100% .

FUT10 1560 100% .

FUT11 1491 96% .

FUT2 1036 100% .

FUT3 1090 100% .

FUT4 1597 75% .





FUT5 1129 100% .

FUT6 1084 100% .

FUT7 1037 82% .

FUT8 1764 100% .

FUT9 1084 100% .

FUZ 1521 75% .

FXC1 324 100% .

FXN 662 74% Friedreich Ataxia

FXR1 2021 100% .

FXR2 2090 98% .

FXYD1 303 100% .

FXYD2 539 83% Hypomagnesemia 2, Renal

FXYD3 638 88% .

FXYD4 298 100% .

FXYD5 648 100% .

FXYD6 312 85% .

FXYD6‐FXYD2 799 86% .

FXYD7 666 73% .

FYB 2590 100%FYB 2590 100% .

FYCO1 4505 100% .

FYN 1818 100% .

FYTTD1 1022 100% .

FZD1 1948 92% .

FZD10 1750 100% .

FZD2 1702 100% .

FZD3 2025 100% .

FZD4 1622 100% Familial Exudative Vitreoretinopathy

FZD4 1622 100% Familial Exudative Vitreoretinopathy, Autosomal Dominant

FZD5 1762 100% .

FZD6 2145 100% .

FZD7 1729 100% .

FZD8 2089 84% .





FZD9 1780 94% .

FZR1 1543 90% .

G0S2 316 99% .

G2E3 2177 100% .

G3BP1 1445 100% .

G3BP2 1493 100% .

G6PC 1100 100% Glycogen Storage Disease Type I

G6PC 1100 100% Glycogen Storage Disease Type Ia

G6PC2 1088 100% .

G6PC3 1065 99% Severe Congenital Neutropenia, Autosomal Recessive, 4

G6PD 1831 95% Glucose‐6‐Phosphate Dehydrogenase Deficiency

GAA 2935 100% Glycogen Storage Disease Type II (Pompe Disease)

GAB1 2242 100% .

GAB2 2071 100% .

GAB3 1804 96% .

GAB4 1765 100% .

GABARAP 370 100% .

GABARAPL1 523 100% .

GABARAPL2 370 100%GABARAPL2 370 100% .

GABBR1 3973 78% .

GABBR2 2902 96% .

GABPA 1401 100% .

GABPB1 1268 100% .

GABPB2 1383 100% .

GABRA1 1407 100% GABRA1‐Related Juvenile Myoclonic Epilepsy

GABRA1 1407 100% Juvenile Myoclonic Epilepsy

GABRA2 1445 100% .

GABRA3 1515 100% .

GABRA4 1701 100% .

GABRA5 1449 100% .

GABRA6 1398 100% .

GABRB1 1461 100% .





GABRB2 1579 100% .

GABRB3 1543 95% .

GABRD 1395 94% GABRD‐Related Generalized Epilepsy with Febrile Seizures Plus

GABRD 1395 94% GABRD‐Related Juvenile Myoclonic Epilepsy

GABRD 1395 94% Juvenile Myoclonic Epilepsy

GABRE 1557 98% .

GABRG1 1434 100% .

GABRG2 1592 92% Epilepsy, Childhood Absence, 2

GABRG2 1592 92% GABRG2‐Related Generalized Epilepsy with Febrile Seizures Plus

GABRG3 1444 96% .

GABRP 1359 100% .

GABRQ 1935 100% .

GABRR1 1480 100% .

GABRR2 1509 100% .

GABRR3 1440 100% .

GAD1 1890 100% .

GAD2 1874 100% .

GADD45A 514 100% .

GADD45B 499 100%GADD45B 499 100% .

GADD45G 496 93% .

GADD45GIP1 677 93% .

GADL1 1640 100% .

GAGE1 467 53% .

GAGE10 367 100% .

GAGE12B 1110 4% .

GAGE12C 2220 5% .

GAGE12D 2220 5% .

GAGE12E 2220 5% .

GAGE12F 1129 14% .

GAGE12G 1850 3% .

GAGE12H 1480 8% .

GAGE12I 1113 6% .





GAGE12J 370 24% .

GAGE13 373 35% .

GAGE2A 1468 34% .

GAGE2B 367 39% .

GAGE2C 1507 42% .

GAGE2D 1140 43% .

GAGE2E 1474 36% .

GAGE4 373 18% .

GAGE5 373 18% .

GAGE6 740 0% .

GAGE7 373 18% .

GAGE8 1474 36% .

GAK 4251 99% .

GAL 392 95% .

GAL3ST1 1283 100% .

GAL3ST2 1213 76% .

GAL3ST3 1304 68% .

GAL3ST4 1591 93% .

GALC 2310 92% Krabbe DiseaseGALC 2310 92% Krabbe Disease

GALE 1087 100% Epimerase Deficiency Galactosemia

GALK1 1301 93% Galactokinase Deficiency

GALK2 1441 99% .

GALM 1090 100% .

GALNS 1625 90% Mucopolysaccharidosis Type IVA

GALNT1 1724 100% .

GALNT10 1979 92% .

GALNT11 1895 100% .

GALNT12 1786 82% .

GALNT13 1715 100% .

GALNT14 1912 100% .

GALNT2 1780 93% .

GALNT3 1942 100% Hyperphosphatemic Familial Tumoral Calcinosis, GALNT3‐Related





GALNT4 865 100% .

GALNT5 2863 100% .

GALNT6 1909 100% .

GALNT7 2073 100% .

GALNT8 1958 100% .

GALNT9 2201 82% .

GALNTL1 1827 100% .

GALNTL2 1991 100% .

GALNTL4 1868 100% .

GALNTL5 1364 100% .

GALNTL6 1903 100% .

GALP 371 100% .

GALR1 1062 98% .

GALR2 1172 91% .

GALR3 1115 63% .

GALT 1241 100% Galactosemia

GAMT 975 75% Creatine Deficiency Syndromes

GAMT 975 75% Guanidinoacetate Methyltransferase Deficiency

GAN 1838 94% Giant Axonal NeuropathyGAN 1838 94% Giant Axonal Neuropathy

GANAB 3001 100% .

GANC 2841 100% .

GAP43 871 100% .

GAPDH 1040 100% .

GAPDHS 1271 100% .

GAPT 478 100% .

GAPVD1 4675 100% .

GAR1 783 100% .

GARNL3 3154 100% .

GARS 2288 96% Charcot‐Marie‐Tooth Neuropathy Type 2

GARS 2288 96% Charcot‐Marie‐Tooth Neuropathy Type 2D/Distal Spinal Muscular Atrophy V

GART 3125 100% .

GAS1 1042 43% .





GAS2 975 100% .

GAS2L1 2069 96% .

GAS2L2 2667 100% .

GAS2L3 2117 100% .

GAS6 2226 86% .

GAS7 1545 100% .

GAS8 1481 99% .

GAST 314 100% .

GATA1 1366 100% GATA1‐Related Cytopenia

GATA2 1463 99% .

GATA3 1355 92% Hypoparathyroidism, Sensorineural Deafness, and Renal Disease

GATA4 1353 64% Isolated Nonsyndromic Congenital Heart Disease/Defects

GATA5 1218 57% .

GATA6 1812 66% .

GATAD1 830 70% .

GATAD2A 1955 100% .

GATAD2B 1822 100% .

GATC 427 100% .

GATM 1467 84% Creatine Deficiency SyndromesGATM 1467 84% Creatine Deficiency Syndromes

GATM 1467 84% L‐Arginine:Glycine Amidinotransferase Deficiency

GATS 556 100% .

GATSL1 9 0% .

GATSL2 1026 7% .

GATSL3 1103 93% .

GBA 1655 100% Gaucher Disease

GBA2 3038 100% .

GBA3 1388 100% .

GBAS 902 89% .

GBE1 2174 100% Adult Polyglucosan Body Disease

GBE1 2174 100% GBE1‐Related Disorders

GBE1 2174 100% Glycogen Storage Disease Type IV

GBF1 5736 100% .





GBGT1 1105 100% .

GBP1 1819 100% .

GBP2 1816 100% .

GBP3 1847 94% .

GBP4 1967 100% .

GBP5 1801 100% .

GBP6 1945 100% .

GBP7 1957 100% .

GBX1 1100 79% .

GBX2 1057 99% .

GC 1534 98% .

GCA 686 100% .

GCAT 1560 90% .

GCC1 2336 100% .

GCC2 5156 100% .

GCDH 1409 100% Glutaricacidemia Type 1

GCET2 570 100% .

GCFC1 2970 95% .

GCFC2 2414 94%GCFC2 2414 94% .

GCG 568 100% .

GCGR 1486 11% .

GCH1 877 93% Dopa‐Responsive Dystonia

GCH1 877 93% GTP Cyclohydrolase 1 Deficiency (GTPCH)

GCH1 877 93% GTP Cyclohydrolase 1‐Deficient Dopa‐Responsive Dystonia

GCH1 877 93% GTP Cyclohydrolase 1‐Related Disorders

GCHFR 267 90% .

GCK 1536 99% Familial Hyperinsulinism

GCK 1536 99% GCK‐Related Hyperinsulinism

GCK 1536 99% GCK‐Related Permanent Neonatal Diabetes Mellitus

GCK 1536 99% Maturity‐Onset Diabetes of the Young Type 2

GCK 1536 99% Permanent Neonatal Diabetes Mellitus

GCKR 1954 100% .





GCLC 2068 100% .

GCLM 853 85% .

GCM1 1331 100% .

GCM2 1541 100% Familial Isolated Hypoparathyroidism

GCM2 1541 100% GCM2‐Related Familial Isolated Hypoparathyroidism

GCN1L1 8248 100% .

GCNT1 1291 100% .

GCNT2 3073 100% .

GCNT3 1321 100% .

GCNT4 1366 100% .

GCNT7 939 100% .

GCOM1 1709 95% .

GCSH 542 72% GCSH‐Related Glycine Encephalopathy

GCSH 542 72% Glycine Encephalopathy

GDA 1480 100% .

GDAP1 1101 100% Charcot‐Marie‐Tooth Neuropathy Type 2

GDAP1 1101 100% Charcot‐Marie‐Tooth Neuropathy Type 2H/2K

GDAP1 1101 100% Charcot‐Marie‐Tooth Neuropathy Type 4

GDAP1 1101 100% Charcot Marie Tooth Neuropathy Type 4AGDAP1 1101 100% Charcot‐Marie‐Tooth Neuropathy Type 4A

GDAP1L1 1283 97% .

GDAP2 1591 100% .

GDE1 1020 99% .

GDF1 1127 32% .

GDF10 1449 99% .

GDF11 1236 92% .

GDF15 935 100% .

GDF2 1298 100% .

GDF3 1103 100% .

GDF5 1642 100% Acromesomelic Dysplasia, Hunter‐Thompson Type

GDF5 1642 100% Brachydactyly Type A2

GDF5 1642 100% Brachydactyly Type C

GDF5 1642 100% Chondrodysplasia, Grebe Type





GDF5 1642 100% Fibular Hypoplasia and Complex Brachydactyly

GDF6 1376 90% Klippel‐Feil Syndrome

GDF7 1361 60% .

GDF9 1373 100% .

GDI1 1435 100% X‐Linked Mental Retardation 41

GDI2 1382 99% .

GDNF 699 100% GDNF‐Related Hirschsprung Disease

GDNF 699 100% Hirschsprung Disease

GDPD1 1068 100% .

GDPD2 1837 91% .

GDPD3 1002 100% .

GDPD4 1623 100% .

GDPD5 1878 99% .

GEM 907 100% .

GEMIN2 883 100% .

GEMIN4 3185 100% .

GEMIN5 4639 100% .

GEMIN6 512 100% .

GEMIN7 400 100%GEMIN7 400 100% .

GEMIN8 741 100% .

GEN1 2779 100% .

GET4 1020 86% .

GFAP 1610 99% Alexander Disease

GFER 666 63% Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay

GFI1 1293 87% .

GFI1B 1017 100% .

GFM1 2421 99% Combined Oxidative Phosphorylation Deficiency

GFM1 2421 99% Combined Oxidative Phosphorylation Deficiency 1

GFM2 2452 100% .

GFOD1 1182 100% .

GFOD2 1166 100% .

GFPT1 2180 99% .





GFPT2 2125 99% .

GFRA1 1438 96% .

GFRA2 1431 68% .

GFRA3 1235 99% .

GFRA4 920 28% .

GFRAL 1221 100% .

GGA1 2054 96% .

GGA2 1910 95% .

GGA3 2241 97% .

GGCT 847 100% .

GGCX 2340 99% Vitamin K‐Dependent Clotting Factors, Combined Deficiency of, 1

GGH 993 99% .

GGN 1967 95% .

GGNBP2 2168 98% .

GGPS1 915 100% .

GGT1 1861 100% .

GGT5 1812 94% .

GGT6 1516 87% .

GGT7 2394 94%GGT7 2394 94% .

GGTLC1 734 100% .

GGTLC2 775 99% .

GH1 976 100% Isolated Growth Hormone Deficiency, Type IA

GH1 976 100% Isolated Growth Hormone Deficiency, Type II

GH2 1011 100% .

GHDC 1714 98% .

GHITM 1079 100% .

GHR 1954 100% Pituitary Dwarfism II

GHRH 343 100% .

GHRHR 1442 89% Isolated Growth Hormone Deficiency, Type IB

GHRL 477 100% .

GHSR 1183 100% Partial Isolated Growth Hormone Deficiency

GIF 1290 100% Intrinsic Factor Deficiency





GIGYF1 3204 99% .

GIGYF2 4078 98% .

GIMAP1 929 98% .

GIMAP1‐GIMAP5 1977 94% .

GIMAP2 1022 100% .

GIMAP4 1045 100% .

GIMAP5 938 100% .

GIMAP6 1155 100% .

GIMAP7 907 100% .

GIMAP8 2014 100% .

GIN1 1597 100% .

GINS1 619 100% .

GINS2 578 87% .

GINS3 784 85% .

GINS4 700 100% .

GIP 482 99% .

GIPC1 1026 93% .

GIPC2 972 97% .

GIPC3 963 76%GIPC3 963 76% .

GIPR 1453 96% .

GIT1 2480 98% .

GIT2 2389 98% .

GJA1 1153 100% Hypoplastic Left Heart Syndrome

GJA1 1153 100% Oculodentodigital Dysplasia

GJA1 1153 100% Syndactyly, Type III

GJA10 1636 100% .

GJA3 1312 87% Zonular Pulverulent Cataract 3

GJA4 1006 100% .

GJA5 1081 100% Familial Atrial Fibrillation

GJA8 1306 100% Zonular Pulverulent Cataract 1

GJA9 1552 100% .

GJB1 856 100% Charcot‐Marie‐Tooth Neuropathy X





GJB1 856 100% Charcot‐Marie‐Tooth Neuropathy X Type 1

GJB2 685 100% DFNA 3 Nonsyndromic Hearing Loss and Deafness

GJB2 685 100% DFNB 1 Nonsyndromic Hearing Loss and Deafness

GJB2 685 100% GJB2‐Related DFNA 3 Nonsyndromic Hearing Loss and Deafness

GJB2 685 100% GJB2‐Related DFNB 1 Nonsyndromic Hearing Loss and Deafness

GJB2 685 100% Ichthyosis, Hystrix‐like, with Deafness

GJB2 685 100% Keratitis‐Ichthyosis‐Deafness Syndrome, Autosomal Dominant

GJB2 685 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

GJB2 685 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

GJB2 685 100% Vohwinkel Syndrome

GJB3 817 100% DFNA 2B Nonsyndromic Hearing Loss and Deafness

GJB3 817 100% GJB3‐Related Erythrokeratodermia Variabilis


GJB4 805 100% GJB4‐Related Erythrokeratodermia Variabilis

GJB5 826 100% .

GJB6 790 100% DFNA 3 Nonsyndromic Hearing Loss and Deafness

GJB6 790 100% DFNB 1 Nonsyndromic Hearing Loss and Deafness

GJB6 790 100% GJB6‐Related DFNA 3 Nonsyndromic Hearing Loss and Deafness

GJB6 790 100% GJB6 Related DFNB 1 Nonsyndromic Hearing Loss and DeafnessGJB6 790 100% GJB6‐Related DFNB 1 Nonsyndromic Hearing Loss and Deafness

GJB6 790 100% Hidrotic Ectodermal Dysplasia 2


GJB6 790 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

GJB7 676 100% .

GJC1 1195 100% .

GJC2 1324 71% Pelizaeus‐Merzbacher‐Like Disease

GJC3 848 100% .

GJD2 974 100% .

GJD3 736 41% .

GJD4 1121 87% .

GK 1784 100% Glycerol Kinase Deficiency

GK2 1666 100% .

GK5 1821 98% .





GKAP1 1145 100% .

GKN1 624 100% .

GKN2 579 100% .

GLA 1318 100% Fabry Disease

GLB1 2101 100% GM1 Gangliosidosis

GLB1 2101 100% Mucopolysaccharidosis Type IVB

GLB1L 2066 100% .

GLB1L2 1987 97% .

GLB1L3 2229 99% .

GLCCI1 1676 78% .

GLCE 1866 100% .

GLDC 3163 96% GLDC‐Related Glycine Encephalopathy

GLDC 3163 96% Glycine Encephalopathy

GLDN 1696 93% .

GLE1 2177 100% Lethal Arthrogryposis With Anterior Horn Cell Disease

GLE1 2177 100% Lethal Congenital Contracture Syndrome 1

GLG1 3724 99% .

GLI1 3365 100% .

GLI2 4815 92% GLI2 Related HoloprosencephalyGLI2 4815 92% GLI2‐Related Holoprosencephaly

GLI2 4815 92% Holoprosencephaly

GLI3 4867 100% GLI3‐Related Disorders

GLI3 4867 100% Greig Cephalopolysyndactyly Syndrome

GLI3 4867 100% Pallister‐Hall Syndrome

GLI3 4867 100% Postaxial Polydactyly Type A

GLI3 4867 100% Preaxial Polydactyly Type IV

GLI4 1143 83% .

GLIPR1 825 100% .

GLIPR1L1 722 100% .

GLIPR1L2 778 100% .

GLIPR2 485 96% .

GLIS1 1895 99% .

GLIS2 1599 88% Nephronophthisis 7





GLIS3 2874 100% Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism

GLMN 1857 100% Glomuvenous Malformation

GLO1 579 99% .

GLOD4 1370 100% .

GLOD5 463 93% .

GLP1R 1444 95% .

GLP2R 1714 100% .

GLRA1 1410 100% GLRA1‐Related Hyperekplexia

GLRA1 1410 100% Hyperekplexia

GLRA2 1467 100% .

GLRA3 1435 100% .

GLRA4 1619 97% .

GLRB 1530 100% GLRB‐Related Hyperekplexia

GLRB 1530 100% Hyperekplexia

GLRX 330 100% .

GLRX2 637 92% .

GLRX3 1052 91% .

GLRX5 482 52% Pyridoxine‐Refractory Sideroblastic Anemia, Autosomal Recessive

GLS 2273 84%GLS 2273 84% .

GLS2 1881 99% .

GLT1D1 833 92% .

GLT25D1 1924 81% .

GLT25D2 1972 98% .

GLT6D1 847 100% .

GLT8D1 1366 100% .

GLT8D2 1086 100% .

GLTP 650 100% .

GLTPD1 653 100% .

GLTPD2 892 64% .

GLTSCR1 4735 76% .

GLTSCR2 1489 81% .

GLUD1 1729 100% Familial Hyperinsulinism





GLUD1 1729 100% GLUD1‐Related Hyperinsulinism

GLUD2 1681 100% .

GLUL 1146 100% .

GLYAT 915 100% .

GLYATL1 1112 97% .

GLYATL2 905 100% .

GLYATL3 887 76% .

GLYCTK 1900 93% .

GLYR1 1726 100% .

GM2A 599 100% GM2 Activator Deficiency

GMCL1 1604 96% .

GMDS 1164 94% .

GMEB1 1758 100% .

GMEB2 1629 100% .

GMFB 495 100% .

GMFG 457 100% .

GMIP 2997 98% .

GML 489 100% .

GMNC 1025 100%GMNC 1025 100% .

GMNN 654 100% .

GMPPA 1506 100% .

GMPPB 1196 100% .

GMPR 1074 92% .

GMPR2 1316 100% .

GMPS 2146 99% .

GNA11 1108 100% .

GNA12 1162 89% .

GNA13 1150 100% .

GNA14 1096 100% .

GNA15 1153 89% .

GNAI1 1100 97% .

GNAI2 1111 100% .





GNAI3 1097 100% .

GNAL 1574 82% .

GNAO1 1447 100% .

GNAQ 1108 100% .

GNAS 4054 100% Albright Hereditary Osteodystrophy

GNAS 4054 100% McCune‐Albright Syndrome

GNAS 4054 100% Osseus Heteroplasia, Progressive

GNAS 4054 100% Pseudohypoparathyroidism Type IB

GNAT1 1085 100% Congenital Stationary Night Blindness, Autosomal Dominant 3

GNAT2 1097 100% Achromatopsia

GNAT2 1097 100% Achromatopsia 4

GNAT3 1097 100% .

GNAZ 1076 100% .

GNB1 1073 100% .

GNB1L 1008 100% .

GNB2 1059 100% .

GNB2L1 1045 100% .

GNB3 1059 100% .

GNB4 1059 100%GNB4 1059 100% .

GNB5 1236 100% .

GNE 2310 100% GNE‐Related Myopathies

GNE 2310 100% Inclusion Body Myopathy 2

GNE 2310 100% Nonaka Myopathy

GNE 2310 100% Sialuria

GNG10 215 77% .

GNG11 230 100% .

GNG12 227 100% .

GNG13 212 100% .

GNG2 224 100% .

GNG3 236 100% .

GNG4 236 100% .

GNG5 215 100% .





GNG7 215 82% .

GNG8 221 100% .

GNGT1 233 100% .

GNGT2 218 100% .

GNL1 2021 96% .

GNL2 2260 100% .

GNL3 1720 100% .

GNL3L 1811 100% .

GNLY 469 100% .

GNMT 912 84% .

GNPAT 2107 100% Rhizomelic Chondrodysplasia Punctata Type 2

GNPDA1 957 100% .

GNPDA2 866 100% .

GNPNAT1 575 100% .

GNPTAB 3855 100% GNPTAB‐Related Mucolipidoses

GNPTAB 3855 100% Mucolipidosis II

GNPTAB 3855 100% Mucolipidosis III Alpha/Beta

GNPTG 962 83% Mucolipidosis III Gamma

GNRH1 291 100%GNRH1 291 100% .

GNRH2 375 100% .

GNRHR 999 100% GNRHR‐Related Isolated Gonadotropin‐Releasing Hormone (GnRH) Deficiency

GNRHR 999 100% Isolated Gonadotropin‐Releasing Hormone (GnRH) Deficiency

GNS 1715 94% Mucopolysaccharidosis Type IIID

GOLGA1 2434 94% .

GOLGA2 3113 100% .

GOLGA3 4619 100% .

GOLGA4 6883 100% .

GOLGA5 2244 100% .

GOLGA6A 2247 49% .

GOLGA6B 2247 66% .

GOLGA6C 2247 60% .

GOLGA6D 2247 49% .





GOLGA6L1 1924 24% .

GOLGA6L10 3234 37% .

GOLGA6L6 2285 13% .

GOLGA6L9 2670 0% .

GOLGA7 430 95% .

GOLGA7B 580 97% .

GOLGA8A 2044 37% .

GOLGA8B 1876 22% .

GOLGB1 9918 100% .

GOLIM4 2155 100% .

GOLM1 1272 100% .

GOLPH3 970 98% .

GOLPH3L 874 100% .

GOLT1A 419 100% .

GOLT1B 437 100% .

GON4L 6993 98% .

GOPC 1425 100% .

GORAB 1209 100% .

GORASP1 1544 98%GORASP1 1544 98% .

GORASP2 1399 96% .

GOSR1 789 100% .

GOSR2 837 96% .

GOT1 1278 100% .

GOT1L1 1302 100% .

GOT2 1333 100% .

GP1BA 1960 100% Bernard‐Soulier Syndrome Type A

GP1BA 1960 100% Pseudo‐von Willebrand Disease

GP1BB 629 4% Bernard‐Soulier Syndrome Type B

GP2 1658 99% .

GP5 1687 99% .

GP6 1895 95% .

GP9 538 90% Bernard‐Soulier Syndrome Type C





GPA33 988 100% .

GPAA1 1914 96% .

GPAM 2579 100% .

GPANK1 1091 99% .

GPAT2 2646 65% .

GPATCH1 2876 97% .

GPATCH2 1627 100% .

GPATCH3 1606 100% .

GPATCH4 1627 100% .

GPATCH8 4541 100% .

GPBAR1 997 100% .

GPBP1 1487 98% .

GPBP1L1 1465 100% .

GPC1 1734 89% .

GPC2 1780 85% .

GPC3 1856 99% Simpson‐Golabi‐Behmel Syndrome

GPC4 1707 100% .

GPC5 1751 100% .

GPC6 1839 100% Omodysplasia 1GPC6 1839 100% Omodysplasia 1

GPCPD1 2095 100% .

GPCRLTM7 1 0% .

GPD1 1082 100% .

GPD1L 1088 100% .

GPD2 2248 100% .

GPER 1132 100% .

GPHA2 402 100% .

GPHB5 400 100% .

GPHN 2402 100% GPHN‐Related Hyperekplexia

GPHN 2402 100% Hyperekplexia

GPI 3140 96% .

GPIHBP1 571 92% .

GPKOW 1475 100% .





GPLD1 2664 98% .

GPM6A 881 100% .

GPM6B 1145 99% .

GPN1 1677 92% .

GPN2 953 100% .

GPN3 888 100% .

GPNMB 1849 100% .

GPR1 1072 100% .

GPR101 1531 100% .

GPR107 1887 89% .

GPR108 1704 99% .

GPR110 2842 98% .

GPR111 2017 100% .

GPR112 9335 100% .

GPR113 3555 98% .

GPR114 1631 100% .

GPR115 2120 100% .

GPR116 4121 100% .

GPR119 1012 100%GPR119 1012 100% .

GPR12 1009 100% .

GPR123 1881 83% .

GPR124 4093 78% .

GPR125 4084 98% .

GPR126 3903 100% .

GPR128 2458 100% .

GPR132 1151 100% .

GPR133 2755 97% .

GPR135 1489 78% .

GPR137 1755 95% .

GPR137B 1371 100% .

GPR137C 1318 94% .

GPR139 1070 100% .





GPR141 922 100% .

GPR142 1405 100% .

GPR143 1311 76% Congenital Nystagmus 6, X‐Linked

GPR143 1311 76% Ocular Albinism, X‐Linked

GPR144 2972 64% .

GPR146 1006 100% .

GPR148 1048 100% .

GPR149 2212 100% .

GPR15 1087 100% .

GPR150 1309 52% .

GPR151 1264 100% .

GPR152 1417 100% .

GPR153 1850 63% .

GPR155 2673 100% .

GPR156 2481 100% .

GPR157 1188 75% .

GPR158 3692 100% .

GPR160 1021 100% .

GPR161 1610 100%GPR161 1610 100% .

GPR162 1802 100% .

GPR17 1112 100% .

GPR171 964 100% .

GPR172A 1354 100% .

GPR172B 1363 100% .

GPR173 1126 99% .

GPR174 1006 100% .

GPR176 1560 92% .

GPR179 7151 100% .

GPR18 1000 100% .

GPR180 1359 90% .

GPR182 1219 100% .

GPR183 1090 100% .





GPR19 1252 100% .

GPR20 1081 96% .

GPR21 1054 100% .

GPR22 1306 100% .

GPR25 1090 92% .

GPR26 1026 91% .

GPR27 1132 67% .

GPR3 997 100% .

GPR31 964 100% .

GPR32 1075 100% .

GPR33 1003 0% .

GPR34 1150 100% .

GPR35 1031 91% .

GPR37 1850 100% .

GPR37L1 1454 100% .

GPR39 1370 100% .

GPR4 1093 100% .

GPR45 1123 100% .

GPR50 1862 100%GPR50 1862 100% .

GPR52 1090 100% .

GPR55 964 100% .

GPR56 2134 100% Polymicrogyria

GPR6 1111 100% .

GPR61 1360 100% .

GPR62 1111 66% .

GPR63 1264 100% .

GPR64 3167 100% .

GPR65 1018 100% .

GPR68 1132 73% .

GPR75 1627 100% .

GPR75‐ASB3 1720 95% .

GPR77 1018 100% .





GPR78 1104 98% .

GPR82 1015 100% .

GPR83 1288 100% .

GPR84 1195 100% .

GPR85 1117 100% .

GPR87 1085 100% .

GPR88 1159 77% .

GPR89A 1424 86% .

GPR89B 1434 30% .

GPR89C 1998 0% .

GPR97 1698 100% .

GPR98 19387 100% Usher Syndrome Type 2

GPR98 19387 100% Usher Syndrome Type 2C

GPRASP1 4192 100% .

GPRASP2 2521 100% .

GPRC5A 1086 100% .

GPRC5B 1224 100% .

GPRC5C 1485 100% .

GPRC5D 1050 100%GPRC5D 1050 100% .

GPRC6A 2805 100% .

GPRIN1 3099 93% .

GPRIN2 1381 100% .

GPRIN3 2335 100% .

GPS1 2135 96% .

GPS2 1024 98% .

GPSM1 2251 72% .

GPSM2 2180 100% .

GPSM3 523 95% .

GPT 1649 96% .

GPT2 1616 96% .

GPX1 665 89% .

GPX2 581 100% .





GPX3 701 100% .

GPX4 623 86% .

GPX5 692 99% .

GPX6 697 100% .

GPX7 576 96% .

GPX8 642 100% .

GRAMD1A 2255 98% .

GRAMD1B 2468 100% .

GRAMD1C 2061 99% .

GRAMD2 1113 96% .

GRAMD3 1572 89% .

GRAMD4 1809 96% .

GRAP 674 55% .

GRAP2 1022 100% .

GRAPL 701 1% .

GRASP 1220 67% .

GRB10 1882 100% .

GRB14 1701 92% .

GRB2 674 100%GRB2 674 100% .

GRB7 1728 99% .

GREB1 6338 100% .

GREB1L 5970 79% .

GREM1 559 100% .

GREM2 511 100% .

GRHL1 1953 100% .

GRHL2 1944 100% DFNA28 Nonsyndromic Hearing Loss and Deafness

GRHL2 1944 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

GRHL3 2100 98% .

GRHPR 1541 99% Hyperoxaluria, Primary, Type 2

GRIA1 2904 100% .

GRIA2 2831 100% .

GRIA3 2864 100% .





GRIA4 3040 100% .

GRID1 3094 98% .

GRID2 3088 100% .

GRID2IP 3724 61% .

GRIK1 2990 99% .

GRIK2 2968 100% .

GRIK3 2878 100% .

GRIK4 2947 87% .

GRIK5 3019 85% .

GRIN1 3178 90% .

GRIN2A 4443 100% .

GRIN2B 4503 100% .

GRIN2C 3804 69% .

GRIN2D 4059 58% .

GRIN3A 3384 93% .

GRIN3B 3169 60% .

GRINA 1140 100% .

GRIP1 3327 100% .

GRIP2 3526 99%GRIP2 3526 99% .

GRIPAP1 2684 99% .

GRK1 1720 58% Oguchi Disease 2

GRK4 1889 100% .

GRK5 1837 100% .

GRK6 1868 100% .

GRK7 1678 100% .

GRM1 3682 100% .

GRM2 2642 100% .

GRM3 2701 100% .

GRM4 2906 100% .

GRM5 3675 95% .

GRM6 3398 85% Congenital Stationary Night Blindness, Type 1B

GRM6 3398 85% GRM6‐Related Autosomal Recessive Congenital Stationary Night Blindness





GRM7 2868 100% .

GRM8 2817 100% .

GRN 1830 100% GRN‐Related Frontotemporal Dementia

GRP 459 70% .

GRPEL1 670 100% .

GRPEL2 768 99% .

GRPR 1167 100% .

GRSF1 1773 63% .

GRTP1 1157 100% .

GRWD1 1369 99% .

GRXCR1 889 100% .

GRXCR2 759 100% .

GSC 786 48% .

GSC2 630 51% .

GSDMA 1382 100% .

GSDMB 1303 100% .

GSDMC 1579 100% .

GSDMD 1495 95% .

GSG1 1254 100%GSG1 1254 100% .

GSG1L 1024 67% .

GSG2 2401 100% .

GSK3A 1533 80% .

GSK3B 1350 100% .

GSN 2535 97% Amyloidosis V

GSPT1 1974 93% .

GSPT2 1891 100% .

GSR 1621 81% .

GSS 1473 100% 5‐Oxoprolinuria

GSTA1 693 100% .

GSTA2 693 100% .

GSTA3 693 100% .

GSTA4 693 100% .





GSTA5 693 100% .

GSTCD 1946 100% .

GSTK1 877 100% .

GSTM1 746 60% Lung Cancer

GSTM1 746 60% Lung Cancer, GSTM1‐Related

GSTM2 759 100% .

GSTM3 710 97% .

GSTM4 933 100% .

GSTM5 911 100% .

GSTO1 750 100% .

GSTO2 756 100% .

GSTP1 661 100% .

GSTT1 743 79% .

GSTT2 1510 33% .

GSTT2B 755 28% .

GSTZ1 819 97% .

GSX1 803 73% .

GSX2 923 88% .

GTDC1 1413 100%GTDC1 1413 100% .

GTF2A1 1167 100% .

GTF2A1L 1500 98% .

GTF2A2 350 100% .

GTF2B 979 100% .

GTF2E1 1336 100% .

GTF2E2 904 100% .

GTF2F1 1606 100% .

GTF2F2 782 95% .

GTF2H1 1703 100% .

GTF2H2 1248 44% .

GTF2H2C 1276 51% .

GTF2H2D 1276 51% .

GTF2H3 979 100% .





GTF2H4 1506 96% .

GTF2H5 224 100% .

GTF2I 3134 70% .

GTF2IRD1 3197 100% .

GTF2IRD2 3104 71% .

GTF2IRD2B 3000 75% .

GTF3A 1248 98% .

GTF3C1 6478 100% .

GTF3C2 2902 100% .

GTF3C3 2860 100% .

GTF3C4 2489 99% .

GTF3C5 1702 98% .

GTF3C6 666 91% .

GTPBP1 2058 91% .

GTPBP10 1204 100% .

GTPBP2 2037 99% .

GTPBP3 1608 96% .

GTPBP4 1973 100% .

GTPBP5 1245 100%GTPBP5 1245 100% .

GTPBP6 964 99% .

GTPBP8 957 100% .

GTSE1 2264 100% .

GTSF1 532 100% .

GTSF1L 451 100% .

GUCA1A 622 100% Cone Dystrophy 3

GUCA1B 619 100% GUCA1B‐Related Retinitis Pigmentosa

GUCA1B 619 100% Retinitis Pigmentosa, Autosomal Dominant

GUCA1C 690 100% .

GUCA2A 360 79% .

GUCA2B 351 100% .

GUCY1A2 2328 100% .

GUCY1A3 2113 100% .





GUCY1B3 2045 100% .

GUCY2C 3330 100% .

GUCY2D 3384 85% Cone‐Rod Dystrophy 6

GUCY2D 3384 85% GUCY2D‐Related Leber Congenital Amaurosis

GUCY2D 3384 85% Leber Congenital Amaurosis

GUCY2F 3399 100% .

GUF1 2102 100% .

GUK1 971 95% .

GULP1 1201 100% .

GUSB 2004 100% Mucopolysaccharidosis Type VII

GXYLT1 1355 90% .

GXYLT2 1360 88% .

GYG1 1143 99% .

GYG2 1693 99% .

GYLTL1B 2218 85% .

GYPA 481 99% .

GYPB 296 100% .

GYPC 424 98% .

GYPE 249 100%GYPE 249 100% .

GYS1 2333 91% Glycogen Storage Disease Type 0, Muscle

GYS2 2176 100% Glycogen Storage Disease Type 0, Liver

GZF1 2156 100% .

GZMA 809 100% .

GZMB 869 100% .

GZMH 762 100% .

GZMK 815 100% .

GZMM 794 90% .

H1F0 589 100% .

H1FNT 772 100% .

H1FOO 1061 76% .

H1FX 646 93% .

H2AFB1 1056 15% .





H2AFB2 704 0% .

H2AFB3 1056 15% .

H2AFJ 394 100% .

H2AFV 634 99% .

H2AFX 436 100% .

H2AFY 1383 100% .

H2AFY2 1151 100% .

H2AFZ 407 100% .

H2BFM 545 100% .

H2BFWT 536 100% .

H3F3A 513 100% .

H3F3B 423 100% .

H3F3C 412 100% .

H6PD 2392 100% .

HAAO 903 91% .

HABP2 1735 100% Factor VII Marburg I Variant Thrombophilia

HABP4 1274 75% .

HACE1 2859 97% .

HACL1 1951 100%HACL1 1951 100% .

HADH 1209 100% 3‐Hydroxyacyl‐Coenzyme A Dehydrogenase Deficiency

HADH 1209 100% Familial Hyperinsulinism

HADH 1209 100% HADH‐Related Hyperinsulinism

HADHA 2441 99% Long Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency

HADHA 2441 99% Trifunctional Protein Deficiency

HADHB 1485 100% Trifunctional Protein Deficiency

HAGH 963 92% .

HAGHL 1070 60% .

HAL 2054 100% Histidinemia

HAMP 267 100% HAMP‐Related Juvenile Hemochromatosis

HAMP 267 100% Juvenile Hemochromatosis

HAND1 656 100% .

HAND2 662 84% .





HAO1 1145 100% .

HAO2 1092 100% .

HAP1 1928 100% .

HAPLN1 1095 100% .

HAPLN2 1043 81% .

HAPLN3 1099 100% .

HAPLN4 1229 93% .

HARBI1 1058 100% .

HARS 1583 100% .

HARS2 1729 94% .

HAS1 1816 81% .

HAS2 1671 100% .

HAS3 1786 100% .

HAT1 1304 100% .

HAUS1 873 97% .

HAUS2 732 88% .

HAUS3 1828 100% .

HAUS4 1128 100% .

HAUS5 1978 93%HAUS5 1978 93% .

HAUS6 2947 100% .

HAUS7 1147 94% .

HAUS8 1286 100% .

HAVCR1 1272 100% .

HAVCR2 934 100% .

HAX1 968 100% Severe Congenital Neutropenia, Autosomal Recessive, 3

HBA1 441 72% Alpha‐Thalassemia

HBA2 441 52% Alpha‐Thalassemia

HBA2 441 52% Hemoglobin Constant Spring

HBA2 441 52% Hemoglobin Pakse

HBA2 441 52% Hemoglobin Quong Sze

HBB 456 100% Beta‐Thalassemia

HBB 456 100% Hemoglobin E





HBB 456 100% Hemoglobin S Beta‐Thalassemia

HBB 456 100% Hemoglobin SC

HBB 456 100% Hemoglobin SD

HBB 456 100% Hemoglobin SO

HBB 456 100% Hemoglobin SS

HBB 456 100% Sickle Cell Disease

HBD 490 100% .

HBE1 456 100% .

HBEGF 647 100% .

HBG1 506 75% .

HBG2 506 100% .

HBM 438 93% .

HBP1 1590 100% .

HBQ1 441 72% .

HBS1L 3762 100% .

HBXIP 538 100% .

HBZ 441 23% Alpha‐Thalassemia

HCAR1 1045 100% .

HCAR2 1096 100%HCAR2 1096 100% .

HCAR3 1 0% .

HCCS 831 100% Microphthalmia with Linear Skin Defects Syndrome

HCFC1 6347 97% .

HCFC1R1 433 87% .

HCFC2 2439 100% .

HCK 1701 91% .

HCLS1 1547 100% .

HCN1 2705 96% .

HCN2 2702 70% .

HCN3 2357 98% .

HCN4 3644 89% Sick Sinus Syndrome 2, Autosomal Dominant

HCRT 404 55% .

HCRTR1 1306 100% .





HCRTR2 1363 100% .

HCST 298 100% .

HDAC1 1583 95% .

HDAC10 2090 98% .

HDAC11 1084 99% .

HDAC2 1915 95% .

HDAC3 1347 100% .

HDAC4 3485 97% .

HDAC5 3515 99% .

HDAC6 3849 99% .

HDAC7 3093 84% .

HDAC8 1394 100% .

HDAC9 3467 100% .

HDC 2037 100% .

HDDC2 640 94% .

HDDC3 439 78% .

HDGF 956 96% .

HDGFL1 760 90% .

HDGFRP2 2095 73%HDGFRP2 2095 73% .

HDGFRP3 636 95% .

HDHD1 777 82% .

HDHD2 804 100% .

HDHD3 760 100% .

HDLBP 4134 97% .

HDX 2109 100% .

HEATR1 6615 100% .

HEATR2 2620 75% .

HEATR3 2174 99% .

HEATR4 3004 100% .

HEATR5A 6267 100% .

HEATR5B 6356 100% .

HEATR6 3626 98% .





HEATR7A 5336 30% .

HEATR7B2 4929 100% .

HEATR8 4328 100% .

HEBP1 586 100% .

HEBP2 634 83% .

HECA 1648 83% .

HECTD1 8038 100% .

HECTD2 2610 95% .

HECTD3 2738 96% .

HECW1 4933 100% .

HECW2 4831 100% .

HEG1 4307 93% .

HELB 3316 100% .

HELLS 2605 99% .

HELQ 3492 100% .

HELT 1000 100% .

HELZ 5949 100% .

HEMGN 1471 100% .

HEMK1 1057 100%HEMK1 1057 100% .

HENMT1 1216 100% .

HEPACAM 1389 79% .

HEPACAM2 1512 100% .

HEPH 3567 100% .

HEPHL1 3560 100% .

HEPN1 271 100% .

HERC1 14897 100% .

HERC2 15212 98% .

HERC3 3287 100% .

HERC4 3270 100% .

HERC5 3167 93% .

HERC6 3231 99% .

HERPUD1 1208 100% .





HERPUD2 1253 100% .

HES1 859 100% .

HES2 538 40% .

HES3 573 62% .

HES4 756 67% .

HES5 513 43% .

HES6 995 61% .

HES7 694 62% HES7‐Related Spondylocostal Dysostosis, Autosomal Recessive

HES7 694 62% Spondylocostal Dysostosis

HES7 694 62% Spondylocostal Dysostosis, Autosomal Recessive

HESX1 574 100% HESX1‐Related Combined Pituitary Hormone Deficiency

HESX1 574 100% Septooptic Dysplasia

HEXA 1679 100% Hexosaminidase A Deficiency

HEXB 1727 98% Sandhoff Disease

HEXDC 1802 100% .

HEXIM1 1084 100% .

HEXIM2 869 83% .

HEY1 947 91% .

HEY2 1034 95%HEY2 1034 95% .

HEYL 1007 80% .

HFE 1071 100% HFE‐Associated Hereditary Hemochromatosis

HFE2 1293 100% HJV (HFE2)‐Related Juvenile Hemochromatosis

HFE2 1293 100% Juvenile Hemochromatosis

HFM1 4468 100% .

HGC6.3 1 0% .

HGD 1395 100% Alkaptonuria

HGF 2301 98% DFNB39 Nonsyndromic Hearing Loss and Deafness

HGF 2301 98% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

HGFAC 2024 94% .

HGS 2422 99% .

HGSNAT 2064 90% Mucopolysaccharidosis Type IIIC

HHAT 1527 100% .





HHATL 1561 99% .

HHEX 829 64% .

HHIP 2287 100% .

HHIPL1 2486 63% .

HHIPL2 2211 100% .

HHLA1 1695 92% .

HHLA2 1357 100% .

HHLA3 475 76% .

HIAT1 1581 96% .

HIATL1 1572 93% .

HIBADH 1043 91% .

HIBCH 1293 100% .

HIC1 2210 69% .

HIC2 1856 100% .

HIF1A 2545 100% .

HIF1AN 1182 94% .

HIF3A 2247 95% .

HIGD1A 356 100% .

HIGD1B 312 100%HIGD1B 312 100% .

HIGD1C 306 89% .

HIGD2A 329 100% .

HILPDA 196 100% .

HINFP 1590 100% .

HINT1 449 100% .

HINT2 512 83% .

HINT3 569 64% .

HIP1 3238 98% .

HIP1R 3419 88% .

HIPK1 3797 100% .

HIPK2 3749 99% .

HIPK3 3712 100% .

HIPK4 1867 99% .





HIRA 3154 100% .

HIRIP3 1699 100% .

HIST1H1A 652 100% .

HIST1H1B 685 100% .

HIST1H1C 646 100% .

HIST1H1D 670 100% .

HIST1H1E 664 100% .

HIST1H1T 628 100% .

HIST1H2AA 400 100% .

HIST1H2AB 397 100% .

HIST1H2AC 397 100% .

HIST1H2AD 397 100% .

HIST1H2AE 397 100% .

HIST1H2AG 397 100% .

HIST1H2AH 391 100% .

HIST1H2AI 397 100% .

HIST1H2AJ 391 100% .

HIST1H2AK 397 100% .

HIST1H2AL 397 100%HIST1H2AL 397 100% .

HIST1H2AM 397 100% .

HIST1H2BA 388 100% .

HIST1H2BB 385 100% .

HIST1H2BC 385 100% .

HIST1H2BD 385 100% .

HIST1H2BE 385 100% .

HIST1H2BF 385 100% .

HIST1H2BG 385 100% .

HIST1H2BH 385 100% .

HIST1H2BI 385 100% .

HIST1H2BJ 385 100% .

HIST1H2BK 385 100% .

HIST1H2BL 385 100% .





HIST1H2BM 385 100% .

HIST1H2BN 385 100% .

HIST1H2BO 385 100% .

HIST1H3A 415 100% .

HIST1H3B 415 100% .

HIST1H3C 415 100% .

HIST1H3D 415 100% .

HIST1H3E 415 100% .

HIST1H3F 415 100% .

HIST1H3G 415 100% .

HIST1H3H 415 100% .

HIST1H3I 415 100% .

HIST1H3J 415 100% .

HIST1H4A 316 100% .

HIST1H4B 316 100% .

HIST1H4C 316 100% .

HIST1H4D 316 100% .

HIST1H4E 316 100% .

HIST1H4F 316 100%HIST1H4F 316 100% .

HIST1H4G 301 100% .

HIST1H4H 316 100% .

HIST1H4I 316 100% .

HIST1H4J 316 100% .

HIST1H4K 316 100% .

HIST1H4L 316 100% .

HIST2H2AA3 794 0% .

HIST2H2AA4 794 0% .

HIST2H2AB 397 100% .

HIST2H2AC 394 100% .

HIST2H2BE 385 100% .

HIST2H2BF 387 99% .

HIST2H3A 830 0% .





HIST2H3C 830 0% .

HIST2H3D 415 100% .

HIST2H4A 632 0% .

HIST2H4B 632 0% .

HIST3H2A 397 100% .

HIST3H2BB 385 100% .

HIST3H3 415 100% .

HIST4H4 316 100% .

HIVEP1 8189 100% .

HIVEP2 7365 100% .

HIVEP3 7245 99% .

HJURP 2283 96% .

HK1 3004 100% .

HK2 2826 96% .

HK3 2959 96% .

HKDC1 2826 100% .

HKR1 1996 100% .

HLA‐A 1207 95% .

HLA B 1407 97%HLA‐B 1407 97% .

HLA‐C 1329 96% .

HLA‐DMA 841 96% .

HLA‐DMB 901 95% .

HLA‐DOA 891 97% .

HLA‐DOB 877 96% .

HLA‐DPA1 827 97% .

HLA‐DPB1 853 96% .

HLA‐DQA1 784 98% Celiac Disease

HLA‐DQA2 812 97% .

HLA‐DQB1 844 98% Celiac Disease

HLA‐DQB2 786 96% .

HLA‐DRA 805 97% .

HLA‐DRB1 856 95% .





HLA‐DRB3 6 0% .

HLA‐DRB4 12 0% .

HLA‐DRB5 825 96% .

HLA‐E 1273 97% .

HLA‐F 1558 97% .

HLA‐G 1089 97% .

HLCS 2217 100% Holocarboxylase Synthetase Deficiency

HLF 904 100% .

HLTF 3142 100% .

HLX 1483 99% .

HM13 1337 98% .

HMBOX1 1299 100% .

HMBS 1142 90% Hydroxymethylbilane Synthase Deficiency

HMCN1 17336 100% Age‐Related Macular Degeneration

HMCN1 17336 100% Age‐Related Macular Degeneration 1

HMG20A 1076 100% .

HMG20B 1604 92% .

HMGA1 1071 76% .

HMGA2 426 74%HMGA2 426 74% .

HMGB1 701 100% .

HMGB2 646 100% .

HMGB3 619 100% .

HMGB4 1 0% .

HMGCL 1014 95% 3‐Hydroxy‐3‐Methylglutaryl‐Coenzyme A Lyase Deficiency

HMGCLL1 1166 100% .

HMGCR 2743 100% .

HMGCS1 1599 100% .

HMGCS2 1563 100% 3‐Hydroxy‐3‐Methylglutaryl‐CoA Synthase 2 Deficiency

HMGN1 640 97% .

HMGN2 297 98% .

HMGN3 326 100% .

HMGN4 277 100% .





HMGN5 873 52% .

HMGXB3 3957 99% .

HMGXB4 1846 100% .

HMHA1 3503 93% .

HMHB1 134 81% .

HMMR 2250 100% .

HMOX1 887 98% .

HMOX2 971 100% .

HMP19 532 100% .

HMSD 432 100% .

HMX1 1144 22% .

HMX2 830 100% .

HMX3 1082 82% .

HN1 612 90% .

HN1L 593 92% .

HNF1A 2318 95% Maturity‐Onset Diabetes of the Young Type 3

HNF1B 1865 92% Renal Cysts and Diabetes Syndrome

HNF4A 1643 100% HNF4A‐Related Maturity‐Onset Diabetes of the Young Type 1

HNF4A 1643 100% Maturity Onset Diabetes of the Young Type 1HNF4A 1643 100% Maturity‐Onset Diabetes of the Young Type 1

HNF4G 1378 100% .

HNMT 1121 100% .

HNRNPA0 922 98% .

HNRNPA1 1163 100% .

HNRNPA1L2 967 100% .

HNRNPA2B1 1106 100% .

HNRNPA3 1177 97% .

HNRNPAB 1027 79% .

HNRNPC 949 100% .

HNRNPCL1 886 100% .

HNRNPD 1100 85% .

HNRNPF 1252 100% .

HNRNPH1 1428 100% .





HNRNPH2 1407 100% .

HNRNPH3 1077 100% .

HNRNPK 1532 100% .

HNRNPL 1822 90% .

HNRNPM 2257 97% .

HNRNPR 1954 100% .

HNRNPU 2556 99% .

HNRNPUL1 2661 98% .

HNRNPUL2 2300 92% .

HNRPDL 1291 90% .

HNRPLL 1750 98% .

HOGA1 1012 100% Hyperoxaluria, Primary, Type 3

HOMER1 1101 100% .

HOMER2 1101 99% .

HOMER3 1122 86% .

HOMEZ 1661 97% .

HOOK1 2275 89% .

HOOK2 2568 91% .

HOOK3 2245 97%HOOK3 2245 97% .

HOPX 466 99% .

HORMAD1 1241 100% .

HORMAD2 964 100% .

HOXA1 1016 100% Athabaskan Brainstem Dysgenesis Syndrome

HOXA1 1016 100% Bosley‐Salih‐Alorainy Syndrome

HOXA1 1016 100% HOXA1‐Related Disorders

HOXA10 1241 88% .

HOXA11 950 94% .

HOXA13 1175 73% Hand‐Foot‐Genital Syndrome

HOXA2 1139 100% .

HOXA3 1340 100% .

HOXA4 971 72% .

HOXA5 821 100% .





HOXA6 710 100% .

HOXA7 701 100% .

HOXA9 827 96% .

HOXB1 914 100% .

HOXB13 863 100% .

HOXB2 1079 100% .

HOXB3 1304 100% .

HOXB4 764 94% .

HOXB5 818 100% .

HOXB6 683 95% .

HOXB7 662 86% .

HOXB8 740 100% .

HOXB9 761 100% .

HOXC10 1037 100% .

HOXC11 923 96% .

HOXC12 857 68% .

HOXC13 1001 82% .

HOXC4 803 100% .

HOXC5 677 97%HOXC5 677 97% .

HOXC6 741 100% .

HOXC8 737 100% .

HOXC9 791 97% .

HOXD1 995 87% .

HOXD10 1031 100% Congenital Vertical Talus

HOXD11 1025 51% .

HOXD12 849 100% .

HOXD13 1040 91% Brachydactyly Type D

HOXD13 1040 91% Brachydactyly Type E

HOXD13 1040 91% HOXD13‐Related Brachydactyly

HOXD13 1040 91% Syndactyly, Type II

HOXD3 1307 100% .

HOXD4 776 100% .





HOXD8 881 81% .

HOXD9 1067 80% .

HP 1359 97% Anhaptoglobinemia

HP1BP3 1710 100% .

HPCA 594 99% .

HPCAL1 638 100% .

HPCAL4 588 100% .

HPD 1238 100% Hawkinsinuria

HPD 1238 100% Tyrosinemia Type III

HPDL 1120 99% .

HPGD 829 94% Isolated Congenital Digital Clubbing

HPGD 829 94% Primary Hypertrophic Osteoarthropathy, Autosomal Recessive

HPGDS 620 100% .

HPN 1472 91% .

HPR 1183 100% .

HPRT1 693 96% Gout, HPRT1‐Related

HPRT1 693 96% Lesch‐Nyhan Syndrome

HPS1 2217 93% Hermansky‐Pudlak Syndrome

HPS1 2217 93% Hermansky Pudlak Syndrome 1HPS1 2217 93% Hermansky‐Pudlak Syndrome 1


HPS3 3083 99% Hermansky‐Pudlak Syndrome 3







HPSE 1680 96% .

HPSE2 1865 92% .

HPX 1429 100% .

HR 3642 92% Alopecia Universalis

HR 3642 92% Papular Atrichia





HRAS 653 100% Costello Syndrome

HRASLS 519 100% .

HRASLS2 505 100% .

HRASLS5 864 92% .

HRC 2124 99% .

HRCT1 352 100% .

HRG 1606 100% .

HRH1 1468 100% .

HRH2 1206 100% .

HRH3 1350 96% .

HRH4 1185 100% .

HRK 280 6% .

HRNR 8561 82% .

HRSP12 438 100% .

HS1BP3 1457 98% .

HS2ST1 1119 100% .

HS3ST1 928 98% .

HS3ST2 1112 97% .

HS3ST3A1 1229 82%HS3ST3A1 1229 82% .

HS3ST3B1 1181 96% .

HS3ST4 1379 67% .

HS3ST5 1049 100% .

HS3ST6 1154 60% .

HS6ST1 1244 83% .

HS6ST2 1958 98% .

HS6ST3 1424 98% .

HSBP1 243 80% .

HSBP1L1 241 0% .

HSCB 737 99% .

HSD11B1 903 100% .

HSD11B1L 1139 65% .

HSD11B2 1238 78% Apparent Mineralocorticoid Excess Syndrome





HSD17B1 1011 100% .

HSD17B10 810 96% 17‐Beta‐Hydroxysteroid Dehydrogenase X Deficiency

HSD17B11 931 100% .

HSD17B12 983 100% .

HSD17B13 931 100% .

HSD17B14 849 100% .

HSD17B2 1184 100% .

HSD17B3 977 100% 17‐beta Hydroxysteroid Dehydrogenase III Deficiency

HSD17B3 977 100% Prostate Cancer

HSD17B4 2448 96% Peroxisomal Bifunctional Enzyme Deficiency

HSD17B6 970 100% .

HSD17B7 1078 100% .

HSD17B8 867 91% .

HSD3B1 1140 100% .

HSD3B2 1131 100% 3‐beta‐Hydroxysteriod Dehydrogenase‐Deficient Congenital Adrenal Hyperplasia

HSD3B2 1131 100% Prostate Cancer

HSD3B7 1134 100% .

HSDL1 1009 100% .

HSDL2 1301 99%HSDL2 1301 99% .

HSF1 1711 93% .

HSF2 1663 100% .

HSF2BP 1046 96% .

HSF4 1545 94% .

HSF5 1879 99% .

HSFX1 2560 0% .

HSFX2 2560 0% .

HSFY1 2634 0% .

HSFY2 2634 0% .

HSH2D 1451 98% .

HSP90AA1 2613 100% .

HSP90AB1 2219 100% .

HSP90B1 2484 100% .





HSPA12A 2076 98% .

HSPA12B 2126 86% .

HSPA13 1436 100% .

HSPA14 1586 100% .

HSPA1A 1934 34% .

HSPA1B 1934 35% .

HSPA1L 1934 100% .

HSPA2 1924 100% .

HSPA4 2599 99% .

HSPA4L 2686 100% .

HSPA5 1997 100% .

HSPA6 1936 97% .

HSPA8 1973 100% .

HSPA9 2173 100% .

HSPB1 827 79% Charcot‐Marie‐Tooth Neuropathy Type 2

HSPB1 827 79% Charcot‐Marie‐Tooth Neuropathy Type 2F

HSPB1 827 79% Distal Hereditary Motor Neuronopathy, Type IIB

HSPB11 496 100% .

HSPB2 557 98%HSPB2 557 98% .

HSPB3 457 100% Distal Hereditary Motor Neuronopathy, Type IIC

HSPB6 495 46% .

HSPB7 804 98% .

HSPB8 603 100% Charcot‐Marie‐Tooth Neuropathy Type 2

HSPB8 603 100% Charcot‐Marie‐Tooth Neuropathy Type 2L

HSPB8 603 100% Distal Hereditary Motor Neuronopathy, Type IIA

HSPB9 484 100% .

HSPBAP1 1499 100% .

HSPBP1 1108 98% .

HSPD1 1778 100% Spastic Paraplegia 13

HSPE1 373 99% .

HSPE1‐MOB4 822 100% .

HSPG2 14046 96% Dyssegmental Dysplasia, Silverman‐Handmaker Type





HSPG2 14046 96% Schwartz‐Jampel Syndrome, Type 1

HSPH1 2670 100% .

HTATIP2 855 88% .

HTATSF1 2304 100% .

HTN1 190 100% .

HTN3 172 100% .

HTR1A 1273 100% .

HTR1B 1177 100% .

HTR1D 1138 100% .

HTR1E 1102 100% .

HTR1F 1105 100% .

HTR2A 1429 100% .

HTR2B 1458 100% .

HTR2C 1393 100% .

HTR3A 1609 98% .

HTR3B 1362 100% .

HTR3C 1380 100% .

HTR3D 1567 96% .

HTR3E 1526 100%HTR3E 1526 100% .

HTR4 1477 100% .

HTR5A 1082 100% .

HTR6 1335 100% .

HTR7 1460 100% .

HTRA1 1479 68% Age‐Related Macular Degeneration

HTRA1 1479 68% Age‐Related Macular Degeneration 7

HTRA1 1479 68% CARASIL

HTRA2 1439 100% HTRA2‐Related Parkinson Disease

HTRA2 1439 100% Parkinson Disease

HTRA3 1398 85% .

HTRA4 1467 80% .

HTT 9701 97% Huntington Disease

HUNK 2189 99% .





HUS1 875 100% .

HUS1B 841 100% .

HUWE1 13455 99% .

HVCN1 846 100% .

HYAL1 1320 100% Mucopolysaccharidosis Type IX

HYAL2 1434 100% .

HYAL3 1411 100% .

HYAL4 1458 100% .

HYDIN 15769 85% .

HYI 1082 82% .

HYLS1 904 100% Hydrolethalus Syndrome 1

HYOU1 3100 100% .

IAH1 800 99% .

IAPP 278 100% .

IARS 3928 100% .

IARS2 3131 100% .

IBA57 1083 73% .

IBSP 978 100% .

IBTK 4202 100%IBTK 4202 100% .

ICA1 1753 100% .

ICA1L 1503 100% .

ICAM1 1627 100% .

ICAM2 844 100% .

ICAM3 1672 100% .

ICAM4 925 100% .

ICAM5 2819 85% .

ICK 1951 100% .

ICMT 875 77% .

ICOS 620 100% Common Variable Immune Deficiency

ICOSLG 1461 84% .

ICT1 645 98% .

ID1 500 100% .





ID2 413 100% .

ID3 368 100% .

ID4 494 76% .

IDAS 1195 0% .

IDE 3160 97% .

IDH1 1280 100% .

IDH2 1403 88% .

IDH3A 1145 98% .

IDH3B 1366 100% IDH3B‐Related Retinitis Pigmentosa

IDH3B 1366 100% Retinitis Pigmentosa, Autosomal Recessive

IDH3G 1337 98% .

IDI1 958 97% .

IDI2 700 100% .

IDO1 1252 100% .

IDO2 1265 100% .

IDS 1841 100% Mucopolysaccharidosis Type II

IDUA 2217 76% Mucopolysaccharidosis Type I

IER2 676 87% .

IER3 597 94%IER3 597 94% .

IER3IP1 261 97% .

IER5 988 89% .

IER5L 1219 65% .

IFFO1 1732 99% .

IFFO2 1590 70% .

IFI16 2414 100% .

IFI27 388 100% .

IFI27L1 331 100% .

IFI27L2 409 100% .

IFI30 781 100% .

IFI35 897 98% .

IFI44 1406 100% .

IFI44L 1391 100% .





IFI6 433 76% .

IFIH1 3186 100% .

IFIT1 1445 100% .

IFIT1B 1433 100% .

IFIT2 1427 100% .

IFIT3 1490 100% .

IFIT5 1457 100% .

IFITM1 401 100% .

IFITM10 699 89% .

IFITM2 514 100% .

IFITM3 511 100% .

IFITM5 407 94% .

IFLTD1 1354 95% .

IFNA1 574 100% .

IFNA10 574 100% .

IFNA13 577 100% .

IFNA14 574 100% .

IFNA16 574 100% .

IFNA17 574 100%IFNA17 574 100% .

IFNA2 571 100% .

IFNA21 574 100% .

IFNA4 574 100% .

IFNA5 574 100% .

IFNA6 574 100% .

IFNA7 574 100% .

IFNA8 574 100% .

IFNAR1 1718 100% .

IFNAR2 1777 100% .

IFNB1 568 100% .

IFNE 631 100% .

IFNG 517 100% .

IFNGR1 1543 100% Familial Atypical Mycobacteriosis, IFNGR1‐Related





IFNGR2 1042 93% Familial Atypical Mycobacteriosis, IFNGR2‐Related

IFNK 628 100% .

IFNW1 592 100% .

IFRD1 1444 100% Spinocerebellar Ataxia Type18

IFRD2 1569 98% .

IFT122 4106 99% Cranioectodermal Dysplasia 1

IFT140 4610 98% .

IFT172 5540 100% .

IFT20 539 77% .

IFT27 589 100% .

IFT43 762 100% .

IFT46 1112 100% .

IFT52 1366 100% .

IFT57 1432 98% .

IFT74 1948 100% .

IFT80 2439 100% Asphyxiating Thoracic Dystrophy 2

IFT81 2215 95% .

IFT88 2606 99% .

IGBP1 1044 100% Agenesis of the Corpus Callosum with Mental Retardation Ocular Coloboma and MicrognathiaIGBP1 1044 100% Agenesis of the Corpus Callosum with Mental Retardation, Ocular Coloboma, and Micrognathia

IGDCC3 2501 96% .

IGDCC4 4019 92% .

IGF1 687 100% Insulin‐Like Growth Factor I Deficiency

IGF1R 4188 97% Insulin‐Like Growth Factor I, Resistance to

IGF2 736 100% Beckwith‐Wiedemann Syndrome

IGF2 736 100% Russell‐Silver Syndrome

IGF2BP1 1794 100% .

IGF2BP2 1882 99% .

IGF2BP3 1808 100% .

IGF2R 7672 98% .

IGFALS 1940 90% Acid‐Labile Subunit Deficiency

IGFBP1 796 90% .

IGFBP2 1080 67% .





IGFBP3 1040 47% .

IGFBP4 793 61% .

IGFBP5 970 97% .

IGFBP6 739 64% .

IGFBP7 869 51% .

IGFBPL1 853 47% .

IGFL1 349 100% .

IGFL2 432 95% .

IGFL3 394 100% .

IGFL4 399 99% .

IGFLR1 1084 100% .

IGFN1 4716 97% .

IGHMBP2 3042 98% Spinal Muscular Atrophy with Respiratory Distress 1

IGIP 166 100% .

IGJ 496 100% .

IGLL1 761 97% .

IGLL5 665 84% .

IGLON5 1043 91% .

IGSF1 4164 100%IGSF1 4164 100% .

IGSF10 7897 100% .

IGSF11 1377 100% .

IGSF21 1444 95% .

IGSF22 4103 74% .

IGSF23 599 100% .

IGSF3 3689 100% .

IGSF5 1260 93% .

IGSF6 857 100% .

IGSF8 1866 97% .

IGSF9 3620 98% .

IGSF9B 4126 100% .

IHH 1248 100% Brachydactyly Type A1

IK 1782 100% .





IKBIP 1906 100% .

IKBKAP 4143 100% Familial Dysautonomia

IKBKB 2439 100% .

IKBKE 2866 97% .

IKBKG 1504 27% Familial Atypical Mycobacteriosis, X‐Linked 1

IKBKG 1504 27% Hypohidrotic Ectodermal Dysplasia with Immune Deficiency

IKBKG 1504 27% Immunodeficiency without Anhidrotic Ectodermal Dysplasia

IKBKG 1504 27% Incontinentia Pigmenti

IKZF1 1791 99% .

IKZF2 1746 100% .

IKZF3 1562 100% .

IKZF4 1848 99% .

IKZF5 1272 100% .

IL10 557 100% .

IL10RA 1765 96% .

IL10RB 1006 95% .

IL11 620 82% .

IL11RA 1321 100% .

IL12A 790 100%IL12A 790 100% .

IL12B 1011 100% Familial Atypical Mycobacteriosis, IL12B‐Related

IL12RB1 2196 94% Familial Atypical Mycobacteriosis, IL12RB1‐Related

IL12RB2 2696 100% .

IL13 457 100% .

IL13RA1 1340 93% .

IL13RA2 1179 100% .

IL15 546 100% .

IL15RA 832 89% .

IL16 4071 100% .

IL17A 480 100% .

IL17B 555 100% .

IL17C 606 100% .

IL17D 617 52% .





IL17F 504 100% .

IL17RA 2673 90% .

IL17RB 1553 98% .

IL17RC 2618 100% .

IL17RD 2275 95% .

IL17RE 2317 83% .

IL17REL 1055 82% .

IL18 602 100% .

IL18BP 640 100% .

IL18R1 1666 100% .

IL18RAP 1895 100% .

IL19 672 98% .

IL1A 840 100% .

IL1B 834 100% .

IL1F10 561 100% .

IL1R1 1791 100% .

IL1R2 1233 100% .

IL1RAP 2496 100% .

IL1RAPL1 2131 100% X Linked Mental Retardation 21IL1RAPL1 2131 100% X‐Linked Mental Retardation 21

IL1RAPL2 2101 100% .

IL1RL1 1728 100% .

IL1RL2 1784 100% .

IL1RN 631 100% Interleukin 1 Receptor Antagonist Deficiency

IL2 478 100% .

IL20 551 100% .

IL20RA 1741 95% .

IL20RB 964 100% .

IL21 509 100% .

IL21R 1650 100% .

IL22 560 100% .

IL22RA1 1753 100% .

IL22RA2 816 100% .





IL23A 586 100% .

IL23R 1930 100% .

IL24 648 100% .

IL25 555 100% .

IL26 536 100% .

IL27 752 100% .

IL27RA 1967 99% .

IL28A 627 100% .

IL28B 613 100% .

IL28RA 1736 87% .

IL29 623 100% .

IL2RA 851 100% Interleukin 2 Receptor Alpha Chain Deficiency

IL2RB 1707 96% .

IL2RG 1249 99% X‐Linked Severe Combined Immunodeficiency

IL3 479 100% .

IL31 507 100% .

IL31RA 2662 100% .

IL32 725 100% .

IL33 841 100%IL33 841 100% .

IL34 753 96% .

IL36A 493 100% .

IL36B 732 100% .

IL36G 526 100% .

IL36RN 484 100% .

IL37 748 100% .

IL3RA 1192 99% .

IL4 478 100% .

IL4I1 1815 83% .

IL4R 2532 99% .

IL5 421 100% .

IL5RA 1329 100% .

IL6 943 100% .





IL6R 1450 94% .

IL6ST 2817 100% .

IL7 558 100% .

IL7R 1605 100% Severe Combined Immune Deficiency, Autosomal Recessive, TCell ‐Negative, B Cell‐Positive, NK Cell‐Positive, IL7R‐Related

IL8 320 100% .

IL9 455 100% .

IL9R 1729 84% .

ILDR1 1767 100% .

ILDR2 1960 85% .

ILF2 1288 100% .

ILF3 2851 100% .

ILK 1407 100% .

ILKAP 1350 96% .

ILVBL 2057 95% .

IMMP1L 521 100% .

IMMP2L 548 100% .

IMMT 2338 98% .

IMP3 559 100% .

IMP4 925 98%IMP4 925 98% .

IMP5 2060 100% .

IMPA1 1047 85% .

IMPA2 899 89% .

IMPACT 1007 96% .

IMPAD1 1100 96% .

IMPDH1 1906 83% IMPDH1‐Related Leber Congenital Amaurosis

IMPDH1 1906 83% IMPDH1‐Related Retinitis Pigmentosa

IMPDH1 1906 83% Leber Congenital Amaurosis

IMPDH1 1906 83% Retinitis Pigmentosa, Autosomal Dominant

IMPDH2 1603 99% .

IMPG1 2462 100% .

IMPG2 3802 100% .

INA 1512 83% .





INADL 5580 100% .

INCA1 735 100% .

INCENP 2829 95% .

INF2 3878 93% Focal Segmental Glomerulosclerosis 5

ING1 1425 99% .

ING2 851 88% .

ING3 1354 100% .

ING4 782 100% .

ING5 796 95% .

INHA 1109 97% .

INHBA 1289 100% .

INHBB 1232 81% .

INHBC 1067 100% .

INHBE 1061 100% .

INMT 804 100% .

INO80 4811 100% .

INO80B 1120 96% .

INO80C 715 84% .

INO80D 3120 100%INO80D 3120 100% .

INO80E 763 84% .

INPP1 1220 100% .

INPP4A 3215 100% .

INPP4B 2867 100% .

INPP5A 1374 94% .

INPP5B 3262 100% .

INPP5D 3648 89% .

INPP5E 1975 79% INPP5E‐Related Joubert Syndrome

INPP5E 1975 79% Joubert Syndrome

INPP5F 3765 95% .

INPP5J 3073 97% .

INPP5K 1395 98% .

INPPL1 3889 93% .





INS 410 99% INS‐Related Maturity‐Onset Diabetes of the Young Type 1

INS 410 99% INS‐Related Permanent Neonatal Diabetes Mellitus

INS 410 99% Maturity‐Onset Diabetes of the Young Type 1

INS 410 99% Permanent Neonatal Diabetes Mellitus

INSC 1792 100% .

INSIG1 1017 99% .

INSIG2 738 100% .

INS‐IGF2 615 75% .

INSL3 404 53% .

INSL4 428 100% .

INSL5 416 100% .

INSL6 650 100% .

INSM1 1537 74% .

INSM2 1705 89% .

INSR 4237 96% Diabetes Mellitus, Insulin‐Resistant, with Acanthosis Nigricans

INSR 4237 96% Donohue Syndrome

INSR 4237 96% Pineal Hyperplasia, Insulin‐Resistant Diabetes Mellitus, and Somatic Abnormalities

INSRR 4013 100% .

INTS1 7114 92%INTS1 7114 92% .

INTS10 2201 100% .

INTS12 1422 100% .

INTS2 3715 100% .

INTS3 3446 100% .

INTS4 2984 100% .

INTS5 3068 97% .

INTS6 2805 100% .

INTS7 2969 100% .

INTS8 3096 96% .

INTS9 2045 100% .

INTU 2893 100% .

INVS 3262 100% Nephronophthisis 2

IP6K1 1346 100% .





IP6K2 1809 95% .

IP6K3 1253 100% .

IPCEF1 1382 100% .

IPMK 1275 100% .

IPO11 3169 96% .

IPO13 3023 97% .

IPO4 3372 100% .

IPO5 3530 100% .

IPO7 3217 100% .

IPO8 3215 100% .

IPO9 3400 100% .

IPP 1889 100% .

IPPK 1528 99% .

IQCA1 2548 98% .

IQCB1 1849 100% Senior‐Loken Syndrome

IQCB1 1849 100% Senior‐Loken Syndrome 5

IQCC 1421 100% .

IQCD 1313 100% .

IQCE 2278 98%IQCE 2278 98% .

IQCF1 634 100% .

IQCF2 507 100% .

IQCF3 477 100% .

IQCF5 455 100% .

IQCF6 377 100% .

IQCG 1417 100% .

IQCH 3296 96% .

IQCJ 548 100% .

IQCJ‐SCHIP1 1848 91% .

IQCK 935 100% .

IQGAP1 5126 100% .

IQGAP2 4872 100% .

IQGAP3 5048 100% .





IQSEC1 3654 91% .

IQSEC2 4658 72% .

IQSEC3 3684 95% .

IQUB 2424 100% .

IRAK1 2420 95% .

IRAK1BP1 799 100% .

IRAK2 1930 100% .

IRAK3 1839 93% .

IRAK4 1427 100% IRAK4 Deficiency

IREB2 2980 100% .

IRF1 1014 100% .

IRF2 1108 100% .

IRF2BP1 1759 98% .

IRF2BP2 1772 82% .

IRF2BPL 2395 90% .

IRF3 1388 97% .

IRF4 1394 94% .

IRF5 1617 100% .

IRF6 1432 100% Cleft Lip +/ Cleft PalateIRF6 1432 100% Cleft Lip +/‐ Cleft Palate

IRF6 1432 100% IRF6‐Related Disorders

IRF6 1432 100% Popliteal Pterygium Syndrome

IRF6 1432 100% van der Woude Syndrome

IRF7 1611 90% .

IRF8 1313 100% .

IRF9 1214 100% .

IRGC 1396 100% .

IRGM 550 0% .

IRGQ 1880 99% .

IRS1 3733 100% .

IRS2 4025 68% .

IRS4 3778 100% .

IRX1 1459 89% .





IRX2 1432 81% .

IRX3 1522 64% .

IRX4 1618 65% .

IRX5 1464 86% .

IRX6 1365 100% .

ISCA1 547 63% .

ISCA2 481 87% .

ISCU 567 93% Myopathy with Deficiency of ISCU

ISG15 506 100% .

ISG20 558 100% .

ISG20L2 1074 100% .

ISL1 1075 100% .

ISL2 1104 99% .

ISLR 1291 100% .

ISLR2 2242 100% .

ISM1 1419 91% .

ISM2 1951 82% .

ISOC1 917 98% .

ISOC2 686 100%ISOC2 686 100% .

ISPD 1396 81% .

IST1 1152 100% .

ISX 754 100% .

ISY1 977 92% .

ISY1‐RAB43 1095 99% .

ISYNA1 1717 95% .

ITCH 2681 100% .

ITFG1 1911 99% .

ITFG2 1392 100% .

ITFG3 1703 100% .

ITGA1 3656 98% .

ITGA10 3624 99% .

ITGA11 3690 98% .





ITGA2 3707 100% Glycoprotein 1a Deficiency

ITGA2B 3375 96% Thrombasthenia of Glanzmann and Naegeli, ITGA2B‐Related

ITGA3 3583 98% .

ITGA4 3211 100% .

ITGA5 3270 100% .

ITGA6 3488 100% Epidermolysis Bullosa with Pyloric Atresia

ITGA6 3488 100% ITGA6‐Related Epidermolysis Bullosa with Pyloric Atresia

ITGA7 3785 96% Congenital Muscular Dystrophy with Integrin Alpha 7 Mutations

ITGA8 3312 99% .

ITGA9 3280 95% .

ITGAD 3750 99% .

ITGAE 3664 100% .

ITGAL 3637 100% .

ITGAM 3579 100% .

ITGAV 3348 100% .

ITGAX 3612 100% .

ITGB1 2584 100% .

ITGB1BP1 651 100% .

ITGB1BP2 1088 100%ITGB1BP2 1088 100% .

ITGB1BP3 721 93% .

ITGB2 2370 100% Leukocyte Adhesion Deficiency, Type 1

ITGB3 2469 97% Thrombasthenia of Glanzmann and Naegeli, ITGB3‐Related

ITGB3BP 689 82% .

ITGB4 5825 98% Epidermolysis Bullosa with Pyloric Atresia

ITGB4 5825 98% ITGB4‐Related Epidermolysis Bullosa with Pyloric Atresia

ITGB5 2460 97% .

ITGB6 2427 100% .

ITGB7 2453 96% .

ITGB8 2366 100% .

ITGBL1 1532 95% .

ITIH1 2931 100% .

ITIH2 2925 100% .





ITIH3 2771 100% .

ITIH4 2946 100% .

ITIH5 3022 100% .

ITIH6 3994 100% .

ITK 2066 100% Lymphoproliferative Syndrome, EBV‐Associated, Autosomal, 1

ITLN1 970 100% .

ITLN2 1010 100% .

ITM2A 816 99% .

ITM2B 825 94% .

ITM2C 828 96% .

ITPA 617 100% .

ITPK1 1333 91% .

ITPKA 1414 68% .

ITPKB 2869 100% .

ITPKC 2080 93% .

ITPR1 8544 100% Spinocerebellar Ataxia Type15

ITPR2 8342 100% .

ITPR3 8248 100% .

ITPRIP 1648 100%ITPRIP 1648 100% .

ITPRIPL1 1710 100% .

ITPRIPL2 1612 97% .

ITSN1 5331 100% .

ITSN2 5305 100% .

IVD 1329 100% Isovaleric Acidemia

IVL 1762 70% .

IVNS1ABP 2035 100% .

IWS1 2516 100% .

IYD 1123 100% Congenital Hypothyroidism

IYD 1123 100% Congenital Hypothyroidism, IYD‐Related

IZUMO1 1089 100% .

IZUMO2 733 99% .

IZUMO4 880 99% .





JAG1 3761 98% Alagille Syndrome

JAG1 3761 98% Isolated Nonsyndromic Congenital Heart Disease/Defects

JAG1 3761 98% JAG1‐Related Alagille Syndrome

JAG2 3821 88% .

JAGN1 560 100% .

JAK1 3561 100% .

JAK2 3491 100% Budd‐Chiari Syndrome

JAK2 3491 100% JAK2‐Related Budd‐Chiari Syndrome

JAK3 3554 91% Severe Combined Immune Deficiency, Autosomal Recessive, T Cell‐Negative, B Cell ‐Positive, NK Cell‐Negative, JAK3‐Related

JAKMIP1 2651 97% .

JAKMIP2 2513 100% .

JAKMIP3 2641 100% .

JAM2 941 99% .

JAM3 1104 97% .

JARID2 3813 100% .

JAZF1 827 100% .

JDP2 541 97% .

JHDM1D 2906 100% .

JKAMP 1028 100%JKAMP 1028 100% .

JMJD1C 7733 100% .

JMJD4 1504 92% .

JMJD5 1397 94% .

JMJD6 1279 100% .

JMJD7 1033 99% .

JMJD7‐PLA2G4B 3189 100% .

JMJD8 1041 70% .

JMY 3007 80% .

JOSD1 627 100% .

JOSD2 583 95% .

JPH1 2006 100% .

JPH2 2126 74% .

JPH3 2267 90% Huntington Disease‐Like 2





JPH4 1911 65% .

JRK 3 0% .

JRKL 1579 84% .

JSRP1 1020 81% .

JTB 495 100% .

JUN 1000 100% .

JUNB 1048 94% .

JUND 1048 61% .

JUP 2290 100% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant

JUP 2290 100% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy12

JUP 2290 100% Naxos Disease

KAAG1 441 100% .

KAL1 2099 95% Kallmann Syndrome

KAL1 2099 95% Kallmann Syndrome 1

KALRN 9730 100% .

KANK1 4243 100% .

KANK2 2624 100% .

KANK3 2672 54% .

KANK4 3024 100%KANK4 3024 100% .

KANSL2 1515 100% .

KANSL3 2767 100% .

KARS 2000 100% .

KAT2A 2586 92% .

KAT2B 2571 95% .

KAT5 1693 100% .

KAT6A 6079 100% .

KAT6B 6286 100% .

KAT7 1896 100% .

KAT8 1513 86% .

KATNA1 1516 100% .

KATNAL1 1513 100% .

KATNAL2 1555 100% .





KATNB1 2294 97% .

KAZALD1 931 100% .

KAZN 2644 92% .

KBTBD10 1845 100% .

KBTBD11 1876 15% .

KBTBD12 1892 100% .

KBTBD13 1381 50% .

KBTBD2 1884 100% .

KBTBD3 1847 100% .

KBTBD4 1621 100% .

KBTBD5 1890 100% .

KBTBD6 2029 100% .

KBTBD7 2059 100% .

KBTBD8 1822 99% .

KCMF1 1177 99% .

KCNA1 1492 100% Episodic Ataxia Type 1

KCNA10 1540 100% .

KCNA2 1689 100% .

KCNA3 1732 97%KCNA3 1732 97% .

KCNA4 1966 100% .

KCNA5 1846 93% Familial Atrial Fibrillation

KCNA6 1594 100% .

KCNA7 1379 96% .

KCNAB1 1791 100% .

KCNAB2 1615 69% .

KCNAB3 1271 89% .

KCNB1 2585 98% .

KCNB2 2744 100% .

KCNC1 1806 85% .

KCNC2 1999 100% .

KCNC3 2290 68% Spinocerebellar Ataxia Type13

KCNC4 2124 100% .





KCND1 2048 99% .

KCND2 1917 100% .

KCND3 1996 99% .

KCNE1 394 100% Jervell and Lange‐Nielsen Syndrome

KCNE1 394 100% Long QT Syndrome 5

KCNE1 394 100% Romano‐Ward Syndrome

KCNE1L 433 89% .

KCNE2 376 100% Familial Atrial Fibrillation

KCNE2 376 100% KCNE2‐Related Familial Atrial Fibrillation

KCNE2 376 100% Long QT Syndrome 6

KCNE2 376 100% Romano‐Ward Syndrome

KCNE3 316 100% Brugada Syndrome 6

KCNE3 316 100% KCNE3‐Related Hypokalemic Periodic Paralysis

KCNE4 517 100% .

KCNF1 1489 99% .

KCNG1 1604 99% .

KCNG2 1409 91% .

KCNG3 1319 93% .

KCNG4 1583 100%KCNG4 1583 100% .

KCNH1 3014 100% .

KCNH2 3921 81% Long QT Syndrome 2

KCNH2 3921 81% Romano‐Ward Syndrome

KCNH2 3921 81% Short QT Syndrome

KCNH2 3921 81% Short QT Syndrome 1

KCNH3 3312 100% .

KCNH4 3118 96% .

KCNH5 3119 100% .

KCNH6 3041 100% .

KCNH7 3722 100% .

KCNH8 3388 100% .

KCNIP1 887 100% .

KCNIP2 1222 91% .





KCNIP3 914 99% .

KCNIP4 920 100% .

KCNJ1 1184 100% Antenatal Bartter Syndrome Type 2

KCNJ10 1144 100% Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome

KCNJ11 1177 100% Diabetes Mellitus, KCNJ11‐Related Transient Neonatal

KCNJ11 1177 100% Familial Hyperinsulinism

KCNJ11 1177 100% KCNJ11‐Related Hyperinsulinism

KCNJ11 1177 100% KCNJ11‐Related Permanent Neonatal Diabetes Mellitus

KCNJ11 1177 100% Permanent Neonatal Diabetes Mellitus

KCNJ12 1306 100% .

KCNJ13 1091 100% .

KCNJ14 1319 82% .

KCNJ15 1132 100% .

KCNJ16 1261 100% .

KCNJ18 1306 100% .

KCNJ2 1288 100% Andersen Syndrome Type 1

KCNJ2 1288 100% Andersen‐Tawil Syndrome

KCNJ2 1288 100% Short QT Syndrome

KCNJ2 1288 100% Short QT Syndrome 3KCNJ2 1288 100% Short QT Syndrome 3

KCNJ3 1518 100% .

KCNJ4 1342 100% .

KCNJ5 1268 100% .

KCNJ6 1284 100% .

KCNJ8 1283 100% .

KCNJ9 1190 94% .

KCNK1 1023 100% .

KCNK10 1757 100% .

KCNK12 1301 58% .

KCNK13 1235 81% .

KCNK15 1001 88% .

KCNK16 1339 94% .

KCNK17 1185 82% .





KCNK18 1167 100% .

KCNK2 1352 100% .

KCNK3 1193 92% .

KCNK4 1394 81% .

KCNK5 1520 99% .

KCNK6 954 90% .

KCNK7 1037 100% .

KCNK9 1133 100% .

KCNMA1 4149 100% Generalized Epilepsy and Paroxysmal Dyskinesia

KCNMB1 588 100% .

KCNMB2 724 100% .

KCNMB3 1057 100% .

KCNMB4 645 100% .

KCNN1 1719 99% .

KCNN2 1777 100% .

KCNN3 2251 100% .

KCNN4 1316 100% .

KCNQ1 2095 92% Beckwith‐Wiedemann Syndrome

KCNQ1 2095 92% Familial Atrial FibrillationKCNQ1 2095 92% Familial Atrial Fibrillation

KCNQ1 2095 92% Jervell and Lange‐Nielsen Syndrome

KCNQ1 2095 92% KCNQ1‐Related Familial Atrial Fibrillation

KCNQ1 2095 92% Long QT Syndrome 1

KCNQ1 2095 92% Romano‐Ward Syndrome

KCNQ1 2095 92% Short QT Syndrome

KCNQ1 2095 92% Short QT Syndrome 2

KCNQ2 3014 94% Benign Familial Neonatal Seizures

KCNQ2 3014 94% Benign Neonatal Epilepsy 1

KCNQ3 2773 95% Benign Familial Neonatal Seizures

KCNQ3 2773 95% Benign Neonatal Epilepsy 2

KCNQ4 2144 92% DFNA 2 Nonsyndromic Hearing Loss

KCNQ4 2144 92% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

KCNQ5 3035 96% .





KCNRG 929 89% .

KCNS1 1593 86% .

KCNS2 1438 100% .

KCNS3 1480 100% .

KCNT1 3841 91% .

KCNT2 3594 100% .

KCNU1 3558 100% .

KCNV1 1515 92% .

KCNV2 1646 100% Retinal Cone Dystrophy 3B

KCP 42 0% .

KCTD1 2618 34% .

KCTD10 1023 100% .

KCTD11 703 100% .

KCTD12 982 92% .

KCTD13 1014 100% .

KCTD14 776 100% .

KCTD15 888 77% .

KCTD16 1295 100% .

KCTD17 926 79%KCTD17 926 79% .

KCTD18 1349 100% .

KCTD19 2845 100% .

KCTD2 881 79% .

KCTD20 1288 100% .

KCTD21 787 100% .

KCTD3 2520 97% .

KCTD4 784 100% .

KCTD5 729 84% .

KCTD6 722 100% .

KCTD7 891 97% Progressive Myoclonic Epilepsy 3

KCTD8 1430 100% .

KCTD9 1234 100% .

KDELC1 1549 100% .





KDELC2 1590 89% .

KDELR1 659 84% .

KDELR2 834 100% .

KDELR3 724 100% .

KDM1A 2715 93% .

KDM1B 1840 100% .

KDM2A 3735 96% .

KDM2B 4210 100% .

KDM3A 4110 100% .

KDM3B 5382 96% .

KDM4A 3279 100% .

KDM4B 3375 93% .

KDM4C 3428 100% .

KDM4D 1576 100% .

KDM4DL 1525 64% .

KDM5A 5200 100% .

KDM5B 4743 100% .

KDM5C 4788 99% KDM5C‐Related X‐Linked Mental Retardation

KDM5D 4725 100%KDM5D 4725 100% .

KDM6A 4322 99% .

KDM6B 5125 96% .

KDR 4191 100% .

KDSR 1039 100% .

KEAP1 1895 100% .

KEL 2275 100% .

KERA 1067 100% .

KHDC1 734 100% .

KHDC1L 412 100% .

KHDRBS1 1368 90% .

KHDRBS2 1086 100% .

KHDRBS3 1077 99% .

KHK 1068 97% .





KHNYN 2065 100% .

KHSRP 2216 84% .

KIAA0020 2015 100% .

KIAA0040 1 0% .

KIAA0090 3082 100% .

KIAA0100 6864 100% .

KIAA0101 377 100% .

KIAA0141 1596 100% .

KIAA0146 2828 82% .

KIAA0182 3725 95% .

KIAA0195 4295 100% .

KIAA0196 3607 100% Spastic Paraplegia 8

KIAA0226 3140 98% .

KIAA0226L 2118 100% .

KIAA0232 4220 100% .

KIAA0240 3284 100% .

KIAA0247 932 100% .

KIAA0284 4847 92% .

KIAA0317 2544 100%KIAA0317 2544 100% .

KIAA0319 3331 99% .

KIAA0319L 3282 100% .

KIAA0355 3265 99% .

KIAA0368 6258 96% .

KIAA0391 1780 100% .

KIAA0408 2105 100% .

KIAA0415 2610 97% .

KIAA0430 5337 100% .

KIAA0494 1532 100% .

KIAA0513 1284 100% .

KIAA0528 3099 100% .

KIAA0556 4969 100% .

KIAA0564 5902 97% .





KIAA0586 5072 95% .

KIAA0664 4034 97% .

KIAA0748 1603 100% .

KIAA0753 2976 99% .

KIAA0754 1 0% .

KIAA0825 4070 89% .

KIAA0889 5108 84% .

KIAA0895 1998 100% .

KIAA0895L 1822 69% .

KIAA0907 1951 100% .

KIAA0913 6320 98% .

KIAA0922 4973 97% .

KIAA0930 1338 92% .

KIAA0947 6877 99% .

KIAA1009 4320 100% .

KIAA1024 2763 100% .

KIAA1033 3654 98% .

KIAA1045 1231 100% .

KIAA1107 4106 100%KIAA1107 4106 100% .

KIAA1109 15411 100% .

KIAA1143 477 100% .

KIAA1147 1404 81% .

KIAA1161 2047 100% .

KIAA1191 946 100% .

KIAA1199 4198 100% .

KIAA1210 5186 100% .

KIAA1211 3734 96% .

KIAA1217 5931 100% .

KIAA1239 5257 100% .

KIAA1244 6670 100% .

KIAA1257 1258 100% .

KIAA1267 3389 99% .





KIAA1274 2647 99% .

KIAA1279 1894 100% Goldberg‐Shprintzen Megacolon Syndrome

KIAA1324 3130 100% .

KIAA1324L 3180 91% .

KIAA1328 1774 97% .

KIAA1377 3398 100% .

KIAA1383 3148 100% .

KIAA1407 2952 100% .

KIAA1429 5656 100% .

KIAA1430 1615 100% .

KIAA1432 4450 97% .

KIAA1456 1377 100% .

KIAA1462 4092 100% .

KIAA1467 1921 98% .

KIAA1468 3767 100% .

KIAA1522 3375 91% .

KIAA1524 2802 100% .

KIAA1530 2182 100% .

KIAA1549 6007 97%KIAA1549 6007 97% .

KIAA1586 2380 92% .

KIAA1598 1964 100% .

KIAA1609 1399 100% .

KIAA1614 3609 98% .

KIAA1644 858 100% .

KIAA1671 5461 18% .

KIAA1683 4583 100% .

KIAA1704 1075 100% .

KIAA1715 1340 100% .

KIAA1731 7925 100% .

KIAA1737 1212 100% .

KIAA1751 2437 100% .

KIAA1755 3659 100% .





KIAA1797 5578 100% .

KIAA1804 3202 85% .

KIAA1826 1046 100% .

KIAA1841 2337 100% .

KIAA1919 1573 100% .

KIAA1958 2163 100% .

KIAA1967 2852 98% .

KIAA1984 2033 93% .

KIAA2013 2034 78% .

KIAA2018 6758 100% .

KIAA2022 4563 100% KIAA2022‐Related X‐linked Mental Retardation

KIAA2026 6344 100% .

KIDINS220 5435 100% .

KIF11 3259 100% .

KIF12 1637 93% .

KIF13A 5686 99% .

KIF13B 5641 96% .

KIF14 5063 100% .

KIF15 4309 100%KIF15 4309 100% .

KIF16B 4743 100% .

KIF17 3314 98% .

KIF18A 2761 100% .

KIF18B 2703 100% .

KIF19 3739 88% .

KIF1A 5573 98% .

KIF1B 7064 100% Charcot‐Marie‐Tooth Neuropathy Type 2

KIF1B 7064 100% Charcot‐Marie‐Tooth Neuropathy Type 2A

KIF1B 7064 100% Charcot‐Marie‐Tooth Neuropathy Type 2A1

KIF1B 7064 100% KIF1B‐Related Neuroblastoma, Susceptibility

KIF1B 7064 100% Neuroblastoma, Susceptibility

KIF1C 3396 100% .

KIF20A 2745 100% .





KIF20B 5682 100% .

KIF21A 5180 99% Congenital Fibrosis of the Extraocular Muscles

KIF21A 5180 99% KIF21A‐Related Congenital Fibrosis of the Extraocular Muscles

KIF21B 5013 99% .

KIF22 2054 99% .

KIF23 2975 100% .

KIF24 4155 100% .

KIF25 1187 88% .

KIF26A 5709 85% .

KIF26B 6387 92% .

KIF27 4319 100% .

KIF2A 2327 97% .

KIF2B 2026 100% .

KIF2C 2302 100% .

KIF3A 2169 100% .

KIF3B 2276 100% .

KIF3C 2414 100% .

KIF4A 3819 100% .

KIF4B 3709 100%KIF4B 3709 100% .

KIF5A 3211 100% Spastic Paraplegia 10

KIF5B 2992 100% .

KIF5C 3046 97% .

KIF6 2588 98% .

KIF7 4207 87% .

KIF9 2492 100% .

KIFAP3 2460 100% .

KIFC1 2088 99% .

KIFC2 2669 88% .

KIFC3 2583 96% .

KIN 1234 100% .

KIR2DL1 1079 93% .

KIR2DL2 8 0% .





KIR2DL3 1058 90% .

KIR2DL4 1242 56% .

KIR2DL5A 8 0% .

KIR2DL5B 8 0% .

KIR2DS1 8 0% .

KIR2DS2 8 0% .

KIR2DS3 8 0% .

KIR2DS4 746 80% .

KIR2DS5 8 0% .

KIR3DL1 1371 79% .

KIR3DL2 1404 73% .

KIR3DL3 1265 56% .

KIR3DS1 8 0% .

KIRREL 2382 99% .

KIRREL2 2231 100% .

KIRREL3 2738 99% .

KISS1 447 95% .

KISS1R 1217 54% Isolated Gonadotropin‐Releasing Hormone (GnRH) Deficiency

KISS1R 1217 54% KISS1R Related Isolated Gonadotropin Releasing Hormone (GnRH) DeficiencyKISS1R 1217 54% KISS1R‐Related Isolated Gonadotropin‐Releasing Hormone (GnRH) Deficiency

KIT 3015 100% Gastrointestinal Stromal Tumor

KIT 3015 100% Piebald Trait, KIT‐Related

KITLG 858 100% .

KL 3110 95% .

KLB 3155 100% .

KLC1 1955 98% .

KLC2 2127 100% .

KLC3 1563 92% .

KLC4 2187 100% .

KLF1 1101 66% .

KLF10 1466 100% .

KLF11 1555 97% Maturity‐Onset Diabetes of the Young Type 7

KLF12 1245 100% .





KLF13 875 54% .

KLF14 976 59% .

KLF15 1259 99% .

KLF16 767 42% .

KLF17 1182 100% .

KLF2 1080 48% .

KLF3 1062 100% .

KLF4 1460 91% .

KLF5 1390 82% .

KLF6 1038 100% .

KLF7 925 100% .

KLF8 1104 100% .

KLF9 743 100% .

KLHDC1 1273 100% .

KLHDC10 1369 98% .

KLHDC2 1273 100% .

KLHDC3 1266 94% .

KLHDC4 1608 95% .

KLHDC5 1530 95%KLHDC5 1530 95% .

KLHDC7A 2338 100% .

KLHDC7B 1789 87% .

KLHDC8A 1073 100% .

KLHDC8B 1085 100% .

KLHDC9 1085 98% .

KLHL1 2291 100% .

KLHL10 1891 100% .

KLHL11 2135 99% .

KLHL12 1796 98% .

KLHL13 2000 100% .

KLHL14 1919 100% .

KLHL15 1823 100% .

KLHL17 2202 89% .





KLHL18 1821 99% .

KLHL2 1884 96% .

KLHL20 1874 100% .

KLHL21 1930 66% .

KLHL22 2009 100% .

KLHL23 1689 100% .

KLHL24 1839 100% .

KLHL25 1774 100% .

KLHL26 1889 95% .

KLHL28 1732 100% .

KLHL29 2680 98% .

KLHL3 1831 100% .

KLHL30 1765 97% .

KLHL31 1913 100% .

KLHL32 1903 100% .

KLHL33 1614 100% .

KLHL34 1939 94% .

KLHL35 1776 55% .

KLHL36 2044 99%KLHL36 2044 99% .

KLHL38 1758 100% .

KLHL4 2271 100% .

KLHL5 2375 100% .

KLHL6 1894 100% .

KLHL7 1868 100% KLHL7‐Related Retinitis Pigmentosa

KLHL8 1899 100% .

KLHL9 1858 100% .

KLK1 877 100% .

KLK10 851 95% .

KLK11 948 99% .

KLK12 829 99% .

KLK13 854 95% .

KLK14 828 82% .





KLK15 791 94% .

KLK2 843 99% .

KLK3 951 100% .

KLK4 864 94% Amelogenesis Imperfecta, Hypomaturation Type, IIA1

KLK5 902 100% .

KLK6 768 100% .

KLK7 783 100% .

KLK8 938 100% .

KLK9 773 99% .

KLKB1 1973 100% .

KLLN 541 0% .

KLRB1 702 100% .

KLRC1 726 100% .

KLRC2 720 97% .

KLRC3 847 87% .

KLRC4 493 100% .

KLRC4‐KLRK1 680 100% .

KLRD1 567 100% .

KLRF1 723 100%KLRF1 723 100% .

KLRF2 6 0% .

KLRG1 590 100% .

KLRG2 1317 67% .

KLRK1 680 100% .

KMO 1521 100% .

KNCN 318 99% .

KNDC1 6225 81% .

KNG1 2060 100% .

KNTC1 6882 99% .

KPNA1 1669 100% .

KPNA2 1630 100% .

KPNA3 1634 100% .

KPNA4 1634 100% .





KPNA5 1676 100% .

KPNA6 1667 100% .

KPNA7 1591 100% .

KPNB1 2719 100% .

KPRP 1744 100% .

KPTN 1359 91% .

KRAS 707 100% Cardiofaciocutaneous Syndrome

KRAS 707 100% KRAS‐Related Cardiofaciocutaneous Syndrome

KRAS 707 100% KRAS‐Related Noonan Syndrome

KRAS 707 100% Noonan Syndrome

KRBA1 3484 95% .

KRBA2 1487 100% .

KRBOX1 403 100% .

KRCC1 784 100% .

KREMEN1 1531 93% .

KREMEN2 1598 52% .

KRI1 2306 93% .

KRIT1 2277 100% Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas

KRIT1 2277 100% Familial Cerebral Cavernous MalformationKRIT1 2277 100% Familial Cerebral Cavernous Malformation

KRIT1 2277 100% Familial Cerebral Cavernous Malformation 1

KRR1 1186 100% .

KRT1 1971 100% KRT1‐Related Epidermolytic Hyperkeratosis

KRT1 1971 100% Nonepidermolytic Palmoplantar Hyperkeratosis

KRT10 1787 99% KRT10‐Related Epidermolytic Hyperkeratosis

KRT12 1517 100% .

KRT13 1409 97% White Sponge Nevus of Cannon, KRT13‐Related

KRT14 1451 97% Epidermolysis Bullosa Simplex

KRT14 1451 97% Epidermolysis Bullosa Simplex, Dowling‐Meara Type

KRT14 1451 97% Epidermolysis Bullosa Simplex, Koebner Type

KRT14 1451 97% Epidermolysis Bullosa Simplex, Weber‐Cockayne Type

KRT15 1427 100% .

KRT16 1454 100% Nonepidermolytic Palmoplantar Hyperkeratosis





KRT16 1454 100% Pachyonychia Congenita

KRT16 1454 100% Pachyonychia Congenita Type 1

KRT17 1331 100% Pachyonychia Congenita

KRT17 1331 100% Pachyonychia Congenita Type 2

KRT17 1331 100% Steatocystoma Multiplex

KRT18 1321 100% .

KRT19 1227 100% .

KRT2 1956 100% Ichthyosis Bullosa of Siemens

KRT20 1307 100% .

KRT222 912 100% .

KRT23 1301 100% .

KRT24 1610 100% .

KRT25 1385 100% .

KRT26 1439 100% .

KRT27 1412 100% .

KRT28 1427 100% .

KRT3 1926 87% .

KRT31 1285 100% .

KRT32 1375 100%KRT32 1375 100% .

KRT33A 1243 100% .

KRT33B 1246 100% .

KRT34 1339 100% .

KRT35 1396 100% .

KRT36 1432 100% .

KRT37 1378 100% .

KRT38 1399 100% .

KRT39 1504 100% .

KRT4 1821 100% White Sponge Nevus of Cannon, KRT4‐Related

KRT40 1324 100% .

KRT5 1809 100% Epidermolysis Bullosa Simplex

KRT5 1809 100% Epidermolysis Bullosa Simplex with Mottled Pigmentation

KRT5 1809 100% Epidermolysis Bullosa Simplex, Dowling‐Meara Type





KRT5 1809 100% Epidermolysis Bullosa Simplex, Koebner Type

KRT5 1809 100% Epidermolysis Bullosa Simplex, Weber‐Cockayne Type

KRT6A 1731 100% Pachyonychia Congenita

KRT6A 1731 100% Pachyonychia Congenita Type 1

KRT6B 1731 100% Pachyonychia Congenita

KRT6B 1731 100% Pachyonychia Congenita Type 2

KRT6C 1731 97% .

KRT7 1446 100% .

KRT71 1608 100% .

KRT72 1572 92% .

KRT73 1695 100% .

KRT74 1626 100% .

KRT75 1854 99% .

KRT76 1953 98% .

KRT77 1773 99% .

KRT78 1599 100% .

KRT79 1644 100% .

KRT8 1485 100% .

KRT80 1430 99%KRT80 1430 99% .

KRT81 1554 69% Monilethrix

KRT82 1578 100% .


KRT84 1839 94% .

KRT85 1560 100% .


KRT9 1900 100% Epidermolytic Palmoplantar Keratoderma

KRTAP10‐1 853 100% .

KRTAP10‐10 760 100% .

KRTAP10‐11 901 100% .

KRTAP10‐12 742 100% .

KRTAP10‐2 772 100% .

KRTAP10‐3 670 100% .





KRTAP10‐4 1222 100% .

KRTAP10‐5 820 100% .

KRTAP10‐6 1102 100% .

KRTAP10‐7 1132 100% .

KRTAP10‐8 784 100% .

KRTAP10‐9 883 100% .

KRTAP1‐1 538 100% .

KRTAP11‐1 496 100% .

KRTAP12‐1 295 100% .

KRTAP12‐2 445 100% .

KRTAP12‐3 295 100% .

KRTAP12‐4 343 99% .

KRTAP1‐3 508 100% .

KRTAP13‐1 523 100% .

KRTAP13‐2 532 100% .

KRTAP13‐3 523 100% .

KRTAP13‐4 487 100% .

KRTAP1‐5 529 100% .

KRTAP15 1 418 100%KRTAP15‐1 418 100% .

KRTAP16‐1 1558 100% .

KRTAP17‐1 322 100% .

KRTAP19‐1 277 100% .

KRTAP19‐2 163 100% .

KRTAP19‐3 250 100% .

KRTAP19‐4 259 100% .

KRTAP19‐5 223 100% .

KRTAP19‐6 181 99% .

KRTAP19‐7 196 100% .

KRTAP19‐8 196 100% .

KRTAP20‐1 175 100% .

KRTAP20‐2 202 100% .

KRTAP20‐3 139 100% .





KRTAP2‐1 391 15% .

KRTAP21‐1 244 100% .

KRTAP21‐2 256 100% .

KRTAP21‐3 181 100% .

KRTAP2‐2 376 5% .

KRTAP22‐1 151 100% .

KRTAP22‐2 142 100% .

KRTAP23‐1 202 100% .

KRTAP2‐4 391 23% .

KRTAP24‐1 769 100% .

KRTAP25‐1 313 100% .

KRTAP26‐1 637 100% .

KRTAP27‐1 628 100% .

KRTAP3‐1 301 100% .

KRTAP3‐2 301 100% .

KRTAP3‐3 301 100% .

KRTAP4‐1 445 92% .

KRTAP4‐11 592 100% .

KRTAP4 12 610 100%KRTAP4‐12 610 100% .

KRTAP4‐2 415 100% .

KRTAP4‐3 592 100% .

KRTAP4‐4 505 100% .

KRTAP4‐5 550 100% .

KRTAP4‐6 622 100% .

KRTAP4‐7 472 100% .

KRTAP4‐8 562 100% .

KRTAP4‐9 637 100% .

KRTAP5‐1 841 100% .

KRTAP5‐10 613 100% .

KRTAP5‐11 475 100% .

KRTAP5‐2 787 100% .

KRTAP5‐3 721 100% .





KRTAP5‐4 691 100% .

KRTAP5‐5 718 96% .

KRTAP5‐6 394 100% .

KRTAP5‐7 502 100% .

KRTAP5‐8 568 100% .

KRTAP5‐9 40 100% .

KRTAP6‐1 220 100% .

KRTAP6‐2 193 100% .

KRTAP6‐3 316 100% .

KRTAP7‐1 2 0% .

KRTAP8‐1 196 100% .

KRTAP9‐1 757 100% .

KRTAP9‐2 529 100% .

KRTAP9‐3 484 100% .

KRTAP9‐4 469 100% .

KRTAP9‐8 484 100% .

KRTAP9‐9 514 100% .

KRTCAP2 509 99% .

KRTCAP3 747 97%KRTCAP3 747 97% .

KRTDAP 324 100% .

KSR1 2607 100% .

KSR2 2933 100% .

KTI12 1069 100% .

KTN1 4255 100% .

KXD1 547 100% .

KY 2275 100% .

KYNU 1476 100% .

L1CAM 3887 100% L1 Syndrome

L1TD1 2606 65% .

L2HGDH 1432 99% L‐2‐Hydroxyglutaric Aciduria

L3MBTL1 2889 99% .

L3MBTL2 2266 100% .





L3MBTL3 2427 100% .

L3MBTL4 1944 100% .

LACC1 1313 100% .

LACE1 1499 100% .

LACRT 437 100% .

LACTB 1672 83% .

LACTB2 895 100% .

LAD1 1594 98% .

LAG3 1636 86% .

LAGE3 448 81% .

LAIR1 946 100% .

LAIR2 479 100% .

LALBA 445 100% .

LAMA1 9684 100% .

LAMA2 9644 99% Laminin Alpha‐2 Deficiency

LAMA3 10481 97% Junctional Epidermolysis Bullosa

LAMA3 10481 97% LAMA3‐Related Junctional Epidermolysis Bullosa

LAMA4 5792 100% .

LAMA5 11408 92%LAMA5 11408 92% .

LAMB1 5697 100% .

LAMB2 5525 100% Pierson Syndrome

LAMB3 3607 100% Junctional Epidermolysis Bullosa

LAMB3 3607 100% LAMB3‐Related Junctional Epidermolysis Bullosa

LAMB4 5632 100% .

LAMC1 4942 100% .

LAMC2 3682 100% Junctional Epidermolysis Bullosa

LAMC2 3682 100% LAMC2‐Related Junctional Epidermolysis Bullosa

LAMC3 4889 91% .

LAMP1 1290 95% .

LAMP2 1560 100% Danon Disease

LAMP2 1560 100% LAMP2‐Related Familial Hypertrophic Cardiomyopathy

LAMP3 1275 96% .





LAMP5 867 100% .

LAMTOR1 506 78% .

LAMTOR2 469 100% .

LAMTOR3 399 100% .

LANCL1 1237 100% .

LANCL2 1389 96% .

LANCL3 1351 80% .

LAP3 1612 99% .

LAPTM4A 730 100% .

LAPTM4B 1122 99% .

LAPTM5 821 100% .

LARGE 2327 100% LARGE‐Related Muscle Diseases

LARGE 2327 100% LARGE‐Related Walker‐Warburg Syndrome

LARGE 2327 100% Walker‐Warburg Syndrome

LARP1 3136 100% .

LARP1B 2951 100% .

LARP4 2261 100% .

LARP4B 2477 100% .

LARP6 1574 87%LARP6 1574 87% .

LARP7 1838 100% .

LARS 3659 100% .

LARS2 2792 100% .

LAS1L 2261 94% .

LASP1 1120 63% .

LAT 941 93% .

LAT2 776 98% .

LATS1 3421 100% .

LATS2 3295 94% .

LAX1 1262 100% .

LAYN 1153 92% .

LBH 334 100% .

LBP 1506 100% .





LBR 1950 100% Greenberg Dysplasia

LBX1 854 97% .

LBX2 593 100% .

LCA5 2122 100% LCA5‐Related Leber Congenital Amaurosis

LCA5 2122 100% Leber Congenital Amaurosis

LCA5L 2042 100% .

LCAT 1347 90% Lecithin Cholesterol Acyltransferase Deficiency

LCE1A 337 100% .

LCE1B 361 100% .

LCE1C 361 100% .

LCE1D 349 100% .

LCE1E 361 100% .

LCE1F 361 100% .

LCE2A 325 100% .

LCE2B 337 100% .

LCE2C 337 100% .

LCE2D 337 100% .

LCE3A 274 100% .

LCE3B 292 53%LCE3B 292 53% .

LCE3C 289 53% .

LCE3D 283 100% .

LCE3E 283 100% .

LCE4A 304 100% .

LCE5A 361 100% .

LCE6A 247 100% .

LCK 1970 100% .

LCLAT1 1274 100% .

LCMT1 1057 100% .

LCMT2 2065 100% .

LCN1 556 100% .

LCN10 698 99% .

LCN12 603 100% .





LCN15 579 90% .

LCN2 621 100% .

LCN6 512 100% .

LCN8 1423 69% .

LCN9 594 99% .

LCNL1 1032 96% .

LCOR 1315 100% .

LCORL 2022 96% .

LCP1 1944 100% .

LCP2 1686 95% .

LCT 5855 100% Lactose Intolerance, Adult Type

LCTL 1756 100% .

LDB1 1334 98% .

LDB2 1263 100% .

LDB3 2572 100% Dilated Cardiomyopathy

LDB3 2572 100% LDB3‐Related Dilated Cardiomyopathy

LDB3 2572 100% Myofibrillar Myopathy

LDB3 2572 100% Zaspopathy

LDHA 1123 100% Glycogen Storage Disease XILDHA 1123 100% Glycogen Storage Disease XI

LDHAL6A 1027 100% .

LDHAL6B 1150 100% .

LDHB 1033 100% Lactate Dehydrogenase B Deficiency

LDHC 1027 100% .

LDHD 1568 92% .

LDLR 2655 100% Familial Hypercholesterolemia

LDLRAD1 706 92% .

LDLRAD2 839 96% .

LDLRAD3 1062 95% .

LDLRAP1 963 90% Familial Hypercholesterolemia, Autosomal Recessive

LDOC1 445 100% .

LDOC1L 724 100% .

LEAP2 246 100% .





LECT1 1214 91% .

LECT2 655 100% .

LEF1 1427 99% .

LEFTY1 1117 94% .

LEFTY2 1117 99% Heterotaxy Syndrome

LEKR1 2133 56% .

LELP1 301 100% .

LEMD1 566 100% .

LEMD2 1552 79% .

LEMD3 2788 89% Buschke‐Ollendorff Syndrome

LENEP 190 100% .

LENG1 811 100% .

LENG8 2848 97% .

LENG9 1510 75% .

LEO1 2049 100% .

LEP 512 100% Leptin Deficiency

LEP 512 100% Monogenic Non‐Syndromic Obesity, Autosomal Recessive

LEPR 3852 95% Leptin Receptor Deficiency

LEPR 3852 95% Monogenic Non Syndromic Obesity Autosomal RecessiveLEPR 3852 95% Monogenic Non‐Syndromic Obesity, Autosomal Recessive

LEPRE1 2631 100% LEPRE1‐Related Osteogenesis Imperfecta

LEPREL1 2187 89% .

LEPREL2 2314 78% .

LEPREL4 1346 93% .

LEPROT 414 99% .

LEPROTL1 647 61% .

LETM1 2276 96% .

LETM2 1465 100% .

LETMD1 1158 100% .

LEUTX 598 97% .

LFNG 1465 85% LFNG‐Related Spondylocostal Dysostosis, Autosomal Recessive

LFNG 1465 85% Spondylocostal Dysostosis

LFNG 1465 85% Spondylocostal Dysostosis, Autosomal Recessive





LGALS1 554 98% .

LGALS12 1072 100% .

LGALS13 436 100% .

LGALS14 542 100% .

LGALS16 4 0% .

LGALS2 415 100% .

LGALS3 1050 98% .

LGALS3BP 1778 100% .

LGALS4 1012 100% .

LGALS7 427 17% .

LGALS7B 427 48% .

LGALS8 1306 100% .

LGALS9 1112 100% .

LGALS9B 1115 80% .

LGALS9C 1115 87% .

LGALSL 559 96% .

LGI1 1706 100% Autosomal Dominant Partial Epilepsy with Auditory Features

LGI2 1670 95% .

LGI3 1679 97%LGI3 1679 97% .

LGI4 1723 79% .

LGMN 1410 100% .

LGR4 2932 94% .

LGR5 2796 100% .

LGR6 3137 98% .

LGSN 1559 100% .

LHB 487 100% .

LHCGR 2144 92% Hypergonadotropic Hypogonadism

LHCGR 2144 92% Leydig Cell Hypoplasia/Agenesis

LHCGR 2144 92% LH Receptor Defects

LHCGR 2144 92% Male‐Limited Precocious Puberty

LHFP 615 100% .

LHFPL1 675 100% .





LHFPL2 695 100% .

LHFPL3 723 100% .

LHFPL4 756 100% .

LHFPL5 672 100% DFNB67 Nonsyndromic Hearing Loss and Deafness

LHFPL5 672 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

LHPP 841 86% .

LHX1 1514 85% .

LHX2 1265 90% .

LHX3 1316 87% LHX3‐Related Combined Pituitary Hormone Deficiency

LHX4 1197 100% LHX4‐Related Combined Pituitary Hormone Deficiency

LHX5 1229 75% .

LHX6 1279 80% .

LHX8 1107 92% .

LHX9 1246 100% .

LIAS 1163 100% .

LIF 621 98% .

LIFR 3370 100% Stuve‐Wiedemann Syndrome

LIG1 2868 94% .

LIG3 3164 100%LIG3 3164 100% .

LIG4 2740 100% .

LILRA1 1506 100% .

LILRA2 1484 100% .

LILRA3 1396 100% .

LILRA4 1532 100% .

LILRA5 1014 100% .

LILRA6 1478 96% .

LILRB1 2123 100% .

LILRB2 1913 98% .

LILRB3 1979 83% .

LILRB4 1521 100% .

LILRB5 2064 99% .

LIM2 664 100% .





LIMA1 2323 100% .

LIMCH1 3398 99% .

LIMD1 2102 100% .

LIMD2 400 100% .

LIME1 908 80% .

LIMK1 2062 94% .

LIMK2 2608 100% .

LIMS1 1363 96% .

LIMS2 1331 89% .

LIMS3 732 0% .

LIMS3L 732 0% .

LIN28A 646 100% .

LIN28B 769 100% .

LIN37 777 100% .

LIN52 375 100% .

LIN54 2298 100% .

LIN7A 722 100% .

LIN7B 648 80% .

LIN7C 614 100%LIN7C 614 100% .

LIN9 2143 88% .

LINGO1 1871 99% .

LINGO2 1825 100% .

LINGO3 1783 89% .

LINGO4 1786 100% .

LINS 2387 100% .

LIPA 1257 100% Wolman Disease

LIPC 1536 100% .

LIPE 3271 96% .

LIPF 1267 98% .

LIPG 1572 100% .

LIPH 1396 100% .

LIPI 1486 100% .





LIPJ 1137 100% .

LIPK 1236 100% .

LIPM 1308 100% .

LIPN 1233 100% .

LIPT1 1126 100% .

LIPT2 704 34% .

LITAF 784 89% Charcot‐Marie‐Tooth Neuropathy Type 1

LITAF 784 89% Charcot‐Marie‐Tooth Neuropathy Type 1C

LIX1 873 100% .

LIX1L 1038 83% .

LLGL1 3283 97% .

LLGL2 3226 97% .

LLPH 398 100% .

LMAN1 1585 100% Factor V and Factor VIII, Combined Deficiency of

LMAN1L 1814 95% .

LMAN2 1126 100% .

LMAN2L 1116 100% .

LMBR1 1559 100% .

LMBR1L 1665 100%LMBR1L 1665 100% .

LMBRD1 1687 100% cblF

LMBRD1 1687 100% Disorders of Intracellular Cobalamin Metabolism

LMBRD2 2156 100% .

LMCD1 1124 100% .

LMF1 1734 98% .

LMF2 2231 90% .

LMLN 2147 100% .

LMNA 2064 94% Atypical Werner Syndrome

LMNA 2064 94% Charcot‐Marie‐Tooth Neuropathy Type 2

LMNA 2064 94% Charcot‐Marie‐Tooth Neuropathy Type 2B1

LMNA 2064 94% Congenital Muscular Dystrophy, LMNA‐Related

LMNA 2064 94% Dilated Cardiomyopathy

LMNA 2064 94% Dilated Cardiomyopathy with Quadriceps Myopathy





LMNA 2064 94% Emery‐Dreifuss Muscular Dystrophy

LMNA 2064 94% Familial Partial Lipodystrophy Type 2

LMNA 2064 94% Hutchinson‐Gilford Progeria Syndrome

LMNA 2064 94% Lethal Restrictive Dermopathy, LMNA‐Related

LMNA 2064 94% Limb‐Girdle Muscular Dystrophies, Autosomal Dominant

LMNA 2064 94% Limb‐Girdle Muscular Dystrophy Type 1B

LMNA 2064 94% Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules

LMNA 2064 94% LMNA‐Related Dilated Cardiomyopathy

LMNA 2064 94% LMNA‐Related Emery‐Dreifuss Muscular Dystrophy, Autosomal

LMNA 2064 94% LMNA‐Related Emery‐Dreifuss Muscular Dystrophy, Autosomal Dominant

LMNA 2064 94% LMNA‐Related Emery‐Dreifuss Muscular Dystrophy, Autosomal Recessive

LMNA 2064 94% LMNA‐Related Muscle Diseases

LMNA 2064 94% Mandibuloacral Dysplasia

LMNA 2064 94% Progeroid Laminopathies

LMNB1 1809 81% Leukodystrophy, Adult‐Onset, Autosomal Dominant

LMNB2 1851 99% .

LMO1 536 100% .

LMO2 812 69% .

LMO3 666 73%LMO3 666 73% .

LMO4 514 100% .

LMO7 5185 100% .

LMOD1 1815 100% .

LMOD2 1698 100% .

LMOD3 1699 100% .

LMTK2 4568 98% .

LMTK3 4534 71% .

LMX1A 1181 100% .

LMX1B 1241 95% Nail‐Patella Syndrome

LNP1 588 100% .

LNPEP 3150 99% .

LNX1 2323 100% .

LNX2 2109 100% .





LOC100127983 5 0% .

LOC100128071 3 0% .

LOC100128496 468 89% .

LOC100129216 221 100% .

LOC100129480 4 0% .

LOC100129520 1012 0% .

LOC100129636 21 0% .

LOC100129924 719 100% .

LOC100130301 4 0% .

LOC100130348 539 100% .

LOC100130357 154 99% .

LOC100130451 3 0% .

LOC100130480 6 0% .

LOC100130705 2 0% .

LOC100130880 4 0% .

LOC100130890 3 0% .

LOC100131094 2 0% .

LOC100132146 3 0% .

LOC100132247 3430 39%LOC100132247 3430 39% .

LOC100132396 923 27% .

LOC100133267 496 20% .

LOC100144595 2 0% .

LOC100287036 2 0% .

LOC100287177 2 0% .

LOC100287482 2 0% .

LOC100287718 5 0% .

LOC100288255 860 10% .

LOC100288524 3 0% .

LOC100288814 541 0% .

LOC100289187 174 0% .

LOC100289561 41 93% .

LOC100293516 1549 93% .





LOC100293534 11085 18% .

LOC100329135 1 0% .

LOC100500938 4 0% .

LOC100505478 4 0% .

LOC100505549 2 0% .

LOC100505679 3 0% .

LOC100505841 3 0% .

LOC100506012 361 77% .

LOC100506388 3 0% .

LOC100506422 410 53% .

LOC100506650 361 100% .

LOC100506688 1 0% .

LOC100506888 1646 24% .

LOC100507003 3 0% .

LOC100507050 682 0% .

LOC100507055 434 69% .

LOC100507096 2 0% .

LOC100507203 2 0% .

LOC100507341 1 0%LOC100507341 1 0% .

LOC100507421 400 0% .

LOC100507462 4 0% .

LOC100507588 5 0% .

LOC100509575 346 100% .

LOC100653515 1874 100% .

LOC120824 1385 100% .

LOC147646 2 0% .

LOC147670 3 0% .

LOC154872 289 0% .

LOC158434 2 0% .

LOC200726 2 0% .

LOC256021 7 0% .

LOC283116 1383 100% .





LOC283403 3 0% .

LOC283710 4 0% .

LOC284385 3 0% .

LOC285033 2 0% .

LOC286238 2 0% .

LOC347411 1 0% .

LOC375190 1010 100% .

LOC388276 6 0% .

LOC388588 2 0% .

LOC388630 7 0% .

LOC388849 501 19% .

LOC388946 671 100% .

LOC389493 1 0% .

LOC389676 3 0% .

LOC389831 2 0% .

LOC390940 635 69% .

LOC391322 2 0% .

LOC399939 2774 7% .

LOC400950 440 100%LOC400950 440 100% .

LOC401052 2 0% .

LOC402160 1418 1% .

LOC440335 4 0% .

LOC440563 1 0% .

LOC554223 24 0% .

LOC643037 4 0% .

LOC643669 5 0% .

LOC643802 777 100% .

LOC643988 685 40% .

LOC644100 3 0% .

LOC646498 4 0% .

LOC646508 1399 99% .

LOC646627 1 0% .





LOC646851 1914 100% .

LOC646862 820 28% .

LOC647589 1172 7% .

LOC649330 886 100% .

LOC650293 1 0% .

LOC653486 300 100% .

LOC728369 12776 2% .

LOC728373 12776 2% .

LOC728379 12776 2% .

LOC728392 1 0% .

LOC728393 12776 2% .

LOC728400 12776 2% .

LOC728405 12776 2% .

LOC728819 1 0% .

LOC729020 1 0% .

LOC729059 3 0% .

LOC729264 2 0% .

LOC730159 2 0% .

LOC730755 391 21%LOC730755 391 21% .

LOC81691 2446 100% .

LOH12CR1 607 100% .

LONP1 2952 96% .

LONP2 2619 98% .

LONRF1 2370 70% .

LONRF2 2313 80% .

LONRF3 2324 92% .

LOR 943 44% .

LOX 1282 98% .

LOXHD1 7123 99% DFNB77 Nonsyndromic Hearing Loss and Deafness

LOXHD1 7123 99% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

LOXL1 1753 74% .

LOXL2 2377 100% .





LOXL3 2322 100% .

LOXL4 2327 100% .

LPA 6279 71% .

LPAR1 1107 100% .

LPAR2 1064 100% .

LPAR3 1070 100% .

LPAR4 1117 100% .

LPAR5 1326 85% .

LPAR6 1039 100% .

LPCAT1 1661 92% .

LPCAT2 1691 100% .

LPCAT3 1512 100% .

LPCAT4 1631 91% .

LPGAT1 1141 100% .

LPHN1 4517 98% .

LPHN2 4288 100% .

LPHN3 4502 100% .

LPIN1 2762 100% Myoglobinuria, Acute Recurrent, Autosomal Recessive

LPIN2 2776 100% Majeed SyndromeLPIN2 2776 100% Majeed Syndrome

LPIN3 2632 100% .

LPL 1468 99% Familial Lipoprotein Lipase Deficiency

LPO 2187 100% .

LPP 1922 100% .

LPPR1 1006 100% .

LPPR2 1391 89% .

LPPR3 2268 56% .

LPPR4 2384 91% .

LPPR5 990 100% .

LPXN 1205 100% .

LRAT 701 100% Leber Congenital Amaurosis

LRAT 701 100% LRAT‐Related Leber Congenital Amaurosis

LRAT 701 100% Retinal Dystrophy, Early‐Onset, Severe





LRBA 8855 100% .

LRCH1 2510 94% .

LRCH2 2394 98% .

LRCH3 2215 100% .

LRCH4 2124 98% .

LRFN1 2324 99% .

LRFN2 2378 100% .

LRFN3 1895 98% .

LRFN4 1916 81% .

LRFN5 2176 100% .

LRG1 1052 100% .

LRGUK 2558 100% .

LRIF1 2326 100% .

LRIG1 3358 96% .

LRIG2 3270 100% .

LRIG3 3496 94% .

LRIT1 1888 89% .

LRIT2 1665 100% .

LRIT3 1917 100%LRIT3 1917 100% .

LRMP 1626 100% .

LRP1 13991 99% .

LRP10 2170 100% .

LRP11 1531 71% .

LRP12 2608 100% .

LRP1B 14164 100% .

LRP2 14328 100% Donnai‐Barrow Syndrome

LRP2BP 1104 100% .

LRP3 2438 94% .

LRP4 5870 98% LRP4‐Related Bone Mineral Density Variation

LRP5 4940 98% Familial Exudative Vitreoretinopathy

LRP5 4940 98% Familial Exudative Vitreoretinopathy, Autosomal Dominant

LRP5 4940 98% Hyperostosis Corticalis Generalisata, Benign Form of Worth, with Torus Palatinus





LRP5 4940 98% LRP5‐Related Bone Mineral Density Variation

LRP5 4940 98% Osteoporosis Pseudoglioma Syndrome

LRP5 4940 98% Van Buchem Disease, Type 2

LRP5L 779 100% .

LRP6 4934 100% .

LRP8 2968 83% .

LRPAP1 1201 87% .

LRPPRC 4389 96% Leigh Syndrome, French‐Canadian Type

LRR1 1261 100% .

LRRC1 1631 100% .

LRRC10 838 100% .

LRRC10B 883 12% .

LRRC14 1494 100% .

LRRC14B 1553 88% .

LRRC15 1772 99% .

LRRC16A 4264 100% .

LRRC16B 4279 97% .

LRRC17 1356 100% .

LRRC18 794 100%LRRC18 794 100% .

LRRC19 1129 100% .

LRRC2 1148 100% .

LRRC20 571 100% .

LRRC23 1313 100% .

LRRC24 1558 74% .

LRRC25 926 100% .

LRRC26 1013 31% .

LRRC27 1815 96% .

LRRC28 1261 100% .

LRRC29 1027 88% .

LRRC3 778 100% .

LRRC30 910 100% .

LRRC31 1695 100% .





LRRC32 1997 100% .

LRRC33 2087 100% .

LRRC34 1439 83% .

LRRC36 2349 99% .

LRRC37A 5173 29% .

LRRC37A2 5173 44% .

LRRC37A3 4953 87% .

LRRC37B 2973 100% .

LRRC38 963 85% .

LRRC39 1112 100% .

LRRC3B 784 100% .

LRRC3C 836 86% .

LRRC4 1966 100% .

LRRC40 1869 100% .

LRRC41 2639 98% .

LRRC42 1315 100% .

LRRC43 2079 98% .

LRRC45 2081 72% .

LRRC46 998 100%LRRC46 998 100% .

LRRC47 1780 79% .

LRRC48 1675 100% .

LRRC49 2131 100% .

LRRC4B 2150 97% .

LRRC4C 1927 100% .

LRRC52 950 100% .

LRRC55 1034 100% .

LRRC56 1762 88% .

LRRC57 740 100% .

LRRC58 1132 82% .

LRRC59 952 100% .

LRRC6 1449 100% .

LRRC61 784 100% .





LRRC66 2659 100% .

LRRC69 1076 55% .

LRRC7 4729 100% .

LRRC70 1873 0% .

LRRC71 1740 86% .

LRRC72 900 100% .

LRRC73 975 98% .

LRRC8A 2441 100% .

LRRC8B 2420 100% .

LRRC8C 2420 100% .

LRRC8D 2581 100% .

LRRC8E 2399 100% .

LRRCC1 3219 100% .

LRRD1 2607 100% .

LRRFIP1 3631 95% .

LRRFIP2 2274 99% .

LRRIQ1 5328 100% .

LRRIQ3 1903 100% .

LRRIQ4 1703 100%LRRIQ4 1703 100% .

LRRK1 6194 97% .

LRRK2 7910 100% LRRK2‐Related Parkinson Disease

LRRK2 7910 100% Parkinson Disease

LRRN1 2155 100% .

LRRN2 2146 100% .

LRRN3 2131 100% .

LRRN4 2239 91% .

LRRN4CL 721 91% .

LRRTM1 1573 100% .

LRRTM2 1559 100% .

LRRTM3 1758 100% .

LRRTM4 1796 100% .

LRSAM1 2268 99% .





LRTM1 1050 100% .

LRTM2 1151 94% .

LRTOMT 1498 95% DFNB63 Nonsyndromic Hearing Loss and Deafness

LRTOMT 1498 95% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

LRWD1 2035 88% .

LSAMP 1045 100% .

LSG1 2033 100% .

LSM1 418 100% .

LSM10 376 100% .

LSM11 1099 90% .

LSM12 617 88% .

LSM14A 1460 98% .

LSM14B 1268 100% .

LSM2 333 92% .

LSM3 325 100% .

LSM4 440 79% .

LSM5 481 100% .

LSM6 255 100% .

LSM7 328 99%LSM7 328 99% .

LSMD1 570 100% .

LSP1 1501 92% .

LSR 1990 99% .

LSS 2287 97% .

LST1 444 89% .

LTA 648 97% .

LTA4H 1921 100% .

LTB 779 96% .

LTB4R 1063 86% .

LTB4R2 1174 100% .

LTBP1 5361 92% .

LTBP2 5610 98% LTBP2‐Related Primary Congenital Glaucoma

LTBP3 4024 85% .





LTBP4 5351 91% Cutis Laxa with Severe Pulmonary, Gastrointestinal, and Urinary Abnormalities

LTBR 1348 97% .

LTC4S 473 58% .

LTF 2213 100% .

LTK 2895 95% .

LTN1 5563 100% .

LTV1 1472 100% .

LUC7L 1228 90% .

LUC7L2 1625 97% .

LUC7L3 1339 100% .

LUM 1025 100% .

LUZP1 3239 100% .

LUZP2 1089 100% .

LUZP4 958 100% .

LUZP6 1 0% .

LXN 693 100% .

LY6D 399 86% .

LY6E 408 100% .

LY6G5B 636 97%LY6G5B 636 97% .

LY6G5C 577 97% .

LY6G6C 408 96% .

LY6G6D 553 97% .

LY6G6F 954 96% .

LY6H 502 73% .

LY6K 685 87% .

LY75 5309 98% .

LY75‐CD302 5778 98% .

LY86 509 100% .

LY9 2143 100% .

LY96 503 100% .

LYAR 1172 100% .

LYG1 605 100% .





LYG2 688 100% .

LYL1 855 63% .

LYN 1587 100% .

LYNX1 669 98% .

LYPD1 490 100% .

LYPD2 390 75% .

LYPD3 1067 100% .

LYPD4 796 100% .

LYPD5 776 98% .

LYPD6 532 100% .

LYPD6B 648 100% .

LYPLA1 759 91% .

LYPLA2 804 100% .

LYPLAL1 734 100% .

LYRM1 381 100% .

LYRM2 3 0% .

LYRM4 377 56% .

LYRM5 275 100% .

LYRM7 335 100%LYRM7 335 100% .

LYSMD1 736 95% .

LYSMD2 660 58% .

LYSMD3 936 100% .

LYSMD4 998 100% .

LYST 11610 100% Chediak‐Higashi Syndrome

LYVE1 993 100% .

LYZ 463 100% Familial Visceral Amyloidosis

LYZ 463 100% LYZ‐Related Familial Visceral Amyloidosis

LYZL1 605 100% .

LYZL2 605 100% .

LYZL4 457 94% .

LYZL6 463 100% .

LZIC 597 100% .





LZTFL1 940 100% .

LZTR1 2784 96% .

LZTS1 1803 100% .

LZTS2 2026 99% .

M6PR 858 100% .

MAB21L1 1084 100% .

MAB21L2 1084 100% .

MAB21L3 1113 100% .

MACC1 2575 100% .

MACF1 16665 100% .

MACROD1 1018 76% .

MACROD2 1420 100% .

MAD1L1 2484 98% .

MAD2L1 638 100% .

MAD2L1BP 1044 76% .

MAD2L2 1058 100% .

MADCAM1 1169 64% .

MADD 5084 100% .

MAEA 1299 99%MAEA 1299 99% .

MAEL 1353 100% .

MAF 1224 71% .

MAF1 799 100% .

MAFA 1066 50% .

MAFB 976 100% .

MAFF 503 56% .

MAFG 497 100% .

MAFIP 1 0% .

MAFK 479 86% .

MAG 1954 96% .

MAGEA1 934 100% .

MAGEA10 1114 100% .

MAGEA10‐MAGEA5 379 100% .





MAGEA11 1319 100% .

MAGEA12 949 100% .

MAGEA2 1898 0% .

MAGEA2B 1898 0% .

MAGEA3 1014 88% .

MAGEA4 1042 100% .

MAGEA5 379 100% .

MAGEA6 1014 88% .

MAGEA8 961 100% .

MAGEA9 1904 10% .

MAGEA9B 1904 10% .

MAGEB1 1048 100% .

MAGEB10 1048 100% .

MAGEB16 1045 100% .

MAGEB18 1036 100% .

MAGEB2 964 100% .

MAGEB3 1045 100% .

MAGEB4 1045 100% .

MAGEB6 1228 99%MAGEB6 1228 99% .

MAGEC1 3438 100% .

MAGEC2 1126 100% .

MAGEC3 2404 100% .

MAGED1 2553 100% .

MAGED2 1865 94% .

MAGED4 4782 3% .

MAGED4B 4914 3% .

MAGEE1 2878 100% .

MAGEE2 1576 100% .

MAGEF1 928 100% .

MAGEH1 664 100% .

MAGEL2 1 0% .

MAGI1 4719 100% .





MAGI2 4456 94% .

MAGI3 4584 98% .

MAGIX 1185 81% .

MAGOH 461 100% .

MAGOHB 467 100% .

MAGT1 1144 100% Congenital Disorders of Glycosylation

MAGT1 1144 100% MAGT1‐CDG

MAK 1925 100% .

MAK16 943 100% .

MAL 478 88% .

MAL2 548 76% .

MALL 478 46% .

MALT1 2547 92% .

MAMDC2 2117 94% .

MAMDC4 3534 96% .

MAML1 3319 83% .

MAML2 3491 95% .

MAML3 3620 99% .

MAMLD1 3467 69%MAMLD1 3467 69% .

MAMSTR 1284 87% .

MAN1A1 2010 100% .

MAN1A2 1978 100% .

MAN1B1 4090 97% .

MAN1C1 1945 100% .

MAN2A1 3523 100% .

MAN2A2 3566 100% .

MAN2B1 3132 95% Alpha‐Mannosidosis

MAN2B2 3157 98% .

MAN2C1 3295 96% .

MANBA 2708 94% Beta‐Mannosidosis

MANBAL 266 100% .

MANEA 1458 100% .





MANEAL 1390 81% .

MANF 574 85% .

MANSC1 1308 100% .

MANSC4 1029 100% .

MAOA 1644 96% MAOA‐Related Behavior Disorders

MAOB 1623 100% .

MAP1A 8580 100% .

MAP1B 7435 100% .

MAP1LC3A 438 88% .

MAP1LC3B 394 98% .

MAP1LC3B2 382 100% .

MAP1LC3C 460 100% .

MAP1S 3208 89% .

MAP2 5804 100% .

MAP2K1 1226 96% Cardiofaciocutaneous Syndrome

MAP2K1 1226 96% MAP2K1‐Related Cardiofaciocutaneous Syndrome

MAP2K2 1247 90% Cardiofaciocutaneous Syndrome

MAP2K2 1247 90% MAP2K2‐Related Cardiofaciocutaneous Syndrome

MAP2K3 1157 100%MAP2K3 1157 100% .

MAP2K4 1244 90% .

MAP2K5 1436 98% .

MAP2K6 1053 100% .

MAP2K7 1451 91% .

MAP3K1 4619 89% .

MAP3K10 2905 88% .

MAP3K11 2584 98% .

MAP3K12 2731 100% .

MAP3K13 2998 100% .

MAP3K14 3035 100% .

MAP3K15 4058 91% .

MAP3K2 1924 100% .

MAP3K3 2042 100% .





MAP3K4 4935 99% .

MAP3K5 4501 94% .

MAP3K6 3994 91% .

MAP3K7 1889 100% .

MAP3K8 1539 100% .

MAP3K9 3409 96% .

MAP4 3722 99% .

MAP4K1 2697 95% .

MAP4K2 2761 96% .

MAP4K3 2821 100% .

MAP4K4 4320 100% .

MAP4K5 2665 100% .

MAP6 2462 75% .

MAP6D1 612 37% .

MAP7 2460 91% .

MAP7D1 2731 88% .

MAP7D2 2390 100% .

MAP7D3 2706 97% .

MAP9 2080 100%MAP9 2080 100% .

MAPK1 1115 92% .

MAPK10 1448 100% .

MAPK11 1147 90% .

MAPK12 1265 82% .

MAPK13 1150 100% .

MAPK14 1242 100% .

MAPK15 1742 97% .

MAPK1IP1L 750 100% .

MAPK3 1229 99% .

MAPK4 1784 89% .

MAPK6 2186 100% .

MAPK7 2717 99% .

MAPK8 1409 100% .





MAPK8IP1 2184 81% .

MAPK8IP2 2612 77% .

MAPK8IP3 4140 99% .

MAPK9 1441 100% .

MAPKAP1 1635 100% .

MAPKAPK2 1301 97% .

MAPKAPK3 1190 99% .

MAPKAPK5 1482 100% .

MAPKBP1 4669 99% .

MAPRE1 831 100% .

MAPRE2 1106 91% .

MAPRE3 870 100% .

MAPT 2401 99% MAPT‐Related Disorders

MARCKS 1007 57% .

MARCKSL1 596 100% .

MARCO 1632 100% .

MARK1 2460 99% .

MARK2 2453 98% .

MARK3 2334 100%MARK3 2334 100% .

MARK4 2497 95% .

MARS 2826 100% .

MARS2 1786 100% .

MARVELD1 1 0% .

MARVELD2 1701 100% DFNB49 Nonsyndromic Hearing Loss and Deafness

MARVELD2 1701 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

MARVELD3 1873 75% .

MAS1 982 100% .

MAS1L 1148 99% .

MASP1 3130 100% .

MASP2 2147 93% MASP2 Deficiency

MAST1 4817 99% .

MAST2 5513 97% .





MAST3 4038 96% .

MAST4 8159 97% .

MASTL 2688 100% Thrombocytopenia 2

MAT1A 1224 100% Isolated Persistent Hypermethioninemia

MAT2A 1228 100% .

MAT2B 1127 95% .

MATK 1655 100% .

MATN1 1523 92% .

MATN2 2949 100% .

MATN3 1494 85% MATN3‐Related Multiple Epiphyseal Dysplasia

MATN3 1494 85% Multiple Epiphyseal Dysplasia, Dominant

MATN4 1783 97% .

MATR3 2868 96% Distal Myopathy 2

MAU2 1954 100% .

MAVS 1772 100% .

MAX 902 100% .

MAZ 1661 84% .

MB 477 100% .

MB21D1 1597 90%MB21D1 1597 90% .

MB21D2 1484 100% .

MBD1 2256 100% .

MBD2 1471 77% .

MBD3 900 99% .

MBD3L1 589 100% .

MBD3L2 635 43% .

MBD3L3 635 92% .

MBD3L4 635 13% .

MBD3L5 635 40% .

MBD4 1829 100% .

MBD5 5262 100% .

MBD6 3056 100% .

MBIP 1071 100% .





MBL2 763 100% Mannose‐Binding Lectin Deficiency

MBLAC1 805 90% .

MBLAC2 994 86% .

MBNL1 1307 100% .

MBNL2 1249 100% .

MBNL3 1189 100% .

MBOAT1 1540 100% .

MBOAT2 1615 95% .

MBOAT4 1320 73% .

MBOAT7 1451 90% .

MBP 1319 96% .

MBTD1 1991 100% .

MBTPS1 3615 100% .

MBTPS2 1627 97% .

MC1R 954 100% .

MC2R 898 100% Glucocorticoid Deficiency 1

MC3R 1087 100% .

MC4R 1003 100% Obesity

MC4R 1003 100% Obesity MC4R RelatedMC4R 1003 100% Obesity, MC4R‐Related

MC5R 982 100% .

MCAM 2503 90% .

MCART1 898 100% .

MCART2 898 100% .

MCART6 928 100% .

MCAT 1189 87% .

MCC 3260 100% .

MCCC1 2254 99% 3‐Methylcrotonyl‐CoA Carboxylase Deficiency

MCCC1 2254 99% MCCC1‐Related 3‐Methylcrotonyl‐CoA Carboxylase Deficiency

MCCC2 1882 94% 3‐Methylcrotonyl‐CoA Carboxylase Deficiency

MCCC2 1882 94% MCCC2‐Related 3‐Methylcrotonyl‐CoA Carboxylase Deficiency

MCCD1 382 95% .

MCEE 543 100% MCEE‐Related Methylmalonic Acidemia





MCEE 543 100% Methylmalonic Acidemia

MCF2 3245 100% .

MCF2L 3737 98% .

MCF2L2 3490 100% .

MCFD2 641 73% Factor V and Factor VIII, Combined Deficiency of

MCHR1 1277 100% .

MCHR2 1043 100% .

MCL1 1076 100% .

MCM10 2731 100% .

MCM2 2798 100% .

MCM3 2630 100% .

MCM3AP 6055 100% .

MCM4 2656 100% .

MCM5 2400 96% .

MCM6 2534 100% Lactose Intolerance, Adult Type

MCM7 2221 100% .

MCM8 2595 100% .

MCM9 3540 95% .

MCMBP 1993 97%MCMBP 1993 97% .

MCOLN1 2030 98% Mucolipidosis IV

MCOLN2 1757 100% .

MCOLN3 1731 100% .

MCPH1 2564 100% Primary Autosomal Recessive Microcephaly

MCPH1 2564 100% Primary Autosomal Recessive Microcephaly Type 1

MCRS1 1498 99% .

MCTP1 3193 90% .

MCTP2 2801 100% .

MCTS1 588 100% .

MCU 1088 92% .

MDC1 6424 98% .

MDFI 757 93% .

MDFIC 1130 95% .





MDGA1 3082 91% .

MDGA2 2948 100% .

MDH1 1102 100% .

MDH1B 1605 100% .

MDH2 1053 93% .

MDK 720 100% .

MDM1 2487 98% .

MDM2 1538 100% .

MDM4 1513 100% .

MDN1 17361 100% .

MDP1 555 100% .

ME1 1775 99% .

ME2 1815 100% .

ME3 1871 100% .

MEA1 574 100% .

MEAF6 662 99% .

MECOM 3792 100% .

MECP2 1605 96% MECP2 Duplication Syndrome

MECP2 1605 96% MECP2 Related DisordersMECP2 1605 96% MECP2‐Related Disorders

MECR 1162 99% .

MED1 4814 100% .

MED10 424 100% .

MED11 366 100% .

MED12 6778 99% FG Syndrome Type 1

MED12 6778 99% Lujan Syndrome

MED12 6778 99% MED12‐Related Disorders

MED12L 6631 100% .

MED13 6645 100% .

MED13L 6757 100% .

MED14 4497 96% .

MED15 2450 100% .

MED16 2737 87% .





MED17 2004 98% .

MED18 635 100% .

MED19 601 63% .

MED20 670 100% .

MED21 451 100% .

MED22 629 100% .

MED23 4292 100% .

MED24 3199 98% .

MED25 2495 98% Charcot‐Marie‐Tooth Neuropathy Type 2B2

MED26 1815 96% .

MED27 969 100% .

MED28 553 100% .

MED29 740 100% .

MED30 553 100% .

MED31 412 100% .

MED4 841 100% .

MED6 824 100% .

MED7 706 100% .

MED8 942 100%MED8 942 100% .

MED9 449 100% .

MEF2A 1700 100% .

MEF2B 1305 67% .

MEF2BNB 386 1% .

MEF2BNB‐MEF2B 1164 74% .

MEF2C 1604 100% Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations

MEF2D 1610 88% .

MEFV 2386 100% Familial Mediterranean Fever

MEGF10 3519 100% .

MEGF11 3453 94% .

MEGF6 5074 86% .

MEGF8 8501 98% .

MEGF9 1833 95% .





MEI1 3949 100% .

MEIG1 275 100% .

MEIS1 1227 100% .

MEIS2 1545 100% .

MEIS3 1389 97% .

MELK 2024 100% .

MEMO1 930 94% .

MEN1 1884 98% Multiple Endocrine Neoplasia Type 1

MEOX1 777 100% .

MEOX2 927 100% .

MEP1A 2297 100% .

MEP1B 2166 100% .

MEPCE 2086 86% .

MEPE 1590 100% .

MERTK 3223 99% MERTK‐Related Retinitis Pigmentosa

MERTK 3223 99% Retinitis Pigmentosa, Autosomal Recessive

MESDC1 1093 89% .

MESDC2 717 100% .

MESP1 815 63%MESP1 815 63% .

MESP2 1202 80% MESP2‐Related Spondylocostal Dysostosis, Autosomal Recessive

MESP2 1202 80% Spondylocostal Dysostosis

MESP2 1202 80% Spondylocostal Dysostosis, Autosomal Recessive

MESP2 1202 80% Spondylothoracic Dysostosis

MEST 1067 98% .

MET 4427 100% Papillary Renal Carcinoma

METAP1 1205 100% .

METAP1D 1048 96% .

METAP2 1481 100% .

METRN 898 40% .

METRNL 952 82% .

METTL1 930 100% .

METTL10 908 67% .





METTL11A 684 100% .

METTL11B 868 100% .

METTL12 731 100% .

METTL13 2132 100% .

METTL14 1426 100% .

METTL15 1292 100% .

METTL16 1725 100% .

METTL17 1496 100% .

METTL18 1123 100% .

METTL19 2350 88% .

METTL20 801 100% .

METTL21A 669 100% .

METTL21B 836 100% .

METTL21C 811 100% .

METTL21D 758 100% .

METTL22 1255 100% .

METTL23 589 100% .

METTL2A 1173 100% .

METTL2B 1173 100%METTL2B 1173 100% .

METTL3 1787 100% .

METTL4 1451 100% .

METTL5 820 100% .

METTL6 875 100% .

METTL7A 743 100% .

METTL7B 743 100% .

METTL8 1212 100% .

METTL9 977 95% .

MEX3A 2 0% .

MEX3B 1718 99% .

MEX3C 1988 72% .

MEX3D 2027 55% .

MFAP1 1356 100% .





MFAP2 584 85% .

MFAP3 1097 100% .

MFAP3L 1249 100% .

MFAP4 874 96% .

MFAP5 558 100% .

MFF 1065 100% .

MFGE8 1196 94% .

MFHAS1 3171 97% .

MFI2 2482 94% .

MFN1 2294 100% .

MFN2 2342 100% Charcot‐Marie‐Tooth Neuropathy Type 2

MFN2 2342 100% Charcot‐Marie‐Tooth Neuropathy Type 2A

MFN2 2342 100% Charcot‐Marie‐Tooth Neuropathy Type 2A2

MFN2 2342 100% Hereditary Motor and Sensory Neuropathy VI

MFNG 1181 100% .

MFRP 1792 100% .

MFSD1 1639 99% .

MFSD10 1519 95% .

MFSD11 1402 100%MFSD11 1402 100% .

MFSD12 1690 92% .

MFSD2A 1688 100% .

MFSD2B 1546 94% .

MFSD3 1259 64% .

MFSD4 1585 90% .

MFSD5 1682 99% .

MFSD6 2400 100% .

MFSD6L 1765 100% .

MFSD7 1788 97% .

MFSD8 1605 100% MFSD8‐Related Neuronal Ceroid‐Lipofuscinosis

MFSD8 1605 100% Neuronal Ceroid‐Lipofuscinoses

MFSD9 1485 100% .

MGA 9437 100% .





MGAM 5762 100% .

MGAT1 1342 99% .

MGAT2 1348 100% Congenital Disorders of Glycosylation

MGAT2 1348 100% MGAT2‐CDG (CDG‐IIa)

MGAT3 1607 100% .

MGAT4A 1770 95% .

MGAT4B 1849 95% .

MGAT4C 1455 100% .

MGAT5 2290 100% .

MGAT5B 2605 99% .

MGEA5 2865 98% .

MGLL 986 96% .

MGMT 737 99% .

MGP 329 100% Keutel Syndrome

MGRN1 1847 94% .

MGST1 480 100% .

MGST2 464 100% .

MGST3 486 100% .

MIA 412 100%MIA 412 100% .

MIA2 1989 100% .

MIA3 5849 98% .

MIB1 3105 100% .

MIB2 3357 82% .

MICA 1210 92% .

MICAL1 3373 100% .

MICAL2 3750 100% .

MICAL3 7042 98% .

MICALCL 2120 95% .

MICALL1 2683 83% .

MICALL2 2800 90% .

MICB 1217 94% .

MICU1 1480 96% .





MID1 2042 100% Opitz G/BBB Syndrome, X‐Linked

MID1IP1 556 100% .

MID2 2248 100% .

MIDN 1435 92% .

MIEN1 364 81% .

MIER1 1940 98% .

MIER2 1694 97% .

MIER3 1720 99% .

MIF 786 75% .

MIF4GD 1047 100% .

MIIP 1210 100% .

MILR1 4 0% .

MINA 1438 100% .

MINK1 4155 93% .

MINOS1 299 100% .

MINPP1 1485 100% .

MIOS 2672 100% .

MIOX 930 100% .

MIP 808 100%MIP 808 100% .

MIPEP 2218 92% .

MIPOL1 1373 100% .

MIR205HG 3 0% .

MIS12 622 100% .

MIS18A 722 100% .

MIS18BP1 3463 100% .

MITD1 789 100% .

MITF 1871 99% Waardenburg Syndrome Type II

MITF 1871 99% Waardenburg Syndrome Type IIA

MIXL1 707 72% .

MKI67 9827 100% .

MKI67IP 910 100% .

MKKS 1729 100% Bardet‐Biedl Syndrome





MKKS 1729 100% McKusick‐Kaufman Syndrome

MKKS 1729 100% MKKS‐Related Bardet‐Biedl Syndrome

MKL1 3090 99% .

MKL2 3424 100% .

MKLN1 2284 100% .

MKNK1 1450 91% .

MKNK2 1545 88% .

MKRN1 1496 89% .

MKRN2 1283 98% .

MKRN3 1528 100% .

MKS1 1755 95% Bardet‐Biedl Syndrome

MKS1 1755 95% Meckel Syndrome

MKS1 1755 95% MKS1‐Related Bardet‐Biedl Syndrome

MKS1 1755 95% MKS1‐Related Meckel Syndrome

MKX 1083 100% .

MLANA 373 100% .

MLC1 1178 97% Megalencephalic Leukoencephalopathy with Subcortical Cysts

MLEC 899 100% .

MLF1 938 100%MLF1 938 100% .

MLF1IP 1309 99% .

MLF2 775 98% .

MLH1 2460 100% Hereditary Non‐Polyposis Colon Cancer

MLH1 2460 100% MLH1‐Related Hereditary Non‐Polyposis Colon Cancer

MLH1 2460 100% MLH1‐Related Muir‐Torre Syndrome

MLH1 2460 100% MLH1‐Related Turcot Syndrome

MLH1 2460 100% Turcot Syndrome

MLH3 4410 100% Hereditary Non‐Polyposis Colon Cancer

MLH3 4410 100% MLH3‐Related Hereditary Non‐Polyposis Colon Cancer

MLIP 1429 100% .

MLKL 1487 100% .

MLL 12054 99% .

MLL2 16830 99% Kabuki Syndrome





MLL3 15028 100% .

MLL4 8312 95% .

MLL5 5822 100% .

MLLT1 1728 97% .

MLLT10 3761 97% .

MLLT11 277 100% .

MLLT3 1751 100% .

MLLT4 5991 93% .

MLLT6 3362 91% .

MLN 364 94% .

MLNR 1398 90% .

MLPH 1913 100% .

MLST8 1281 100% .

MLX 1183 84% .

MLXIP 2983 95% .

MLXIPL 2830 89% .

MLYCD 1502 83% Malonyl‐CoA Decarboxylase Deficiency

MMAA 1281 100% Methylmalonic Acidemia

MMAA 1281 100% MMAA Related Methylmalonic AcidemiaMMAA 1281 100% MMAA‐Related Methylmalonic Acidemia

MMAB 789 87% Methylmalonic Acidemia

MMAB 789 87% MMAB‐Related Methylmalonic Acidemia

MMACHC 865 100% cblC

MMACHC 865 100% Disorders of Intracellular Cobalamin Metabolism

MMADHC 919 100% cblD

MMADHC 919 100% cblD (variant 1)

MMADHC 919 100% cblD (variant 2)

MMADHC 919 100% Disorders of Intracellular Cobalamin Metabolism

MMADHC 919 100% Methylmalonic Acidemia

MMADHC 919 100% MMADHC‐Related Methylmalonic Acidemia

MMD 745 100% .

MMD2 841 98% .

MME 2341 100% .





MMEL1 2461 94% .

MMGT1 559 59% .

MMP1 1450 100% .

MMP10 1471 100% .

MMP11 1503 93% .

MMP12 1453 100% .

MMP13 1456 100% .

MMP14 1789 100% .

MMP15 2050 91% .

MMP16 1864 100% .

MMP17 1852 84% .

MMP19 1669 100% .

MMP2 2042 100% Multicentric Osteolysis of Torg

MMP2 2042 100% Multicentric Osteolysis, Nodulosis, and Arthropathy

MMP2 2042 100% Winchester Syndrome

MMP20 1492 100% Amelogenesis Imperfecta, Hypomaturation Type, IIA2

MMP21 1738 82% .

MMP23B 1538 10% .

MMP24 1974 87%MMP24 1974 87% .

MMP25 1729 88% .

MMP26 810 100% .

MMP27 1582 100% .

MMP28 1608 97% .

MMP3 1474 100% .

MMP7 828 100% .

MMP8 1444 100% .

MMP9 2176 79% .

MMRN1 3719 100% .

MMRN2 2878 98% .

MMS19 3347 100% .

MMS22L 3828 100% .

MN1 3971 88% .





MNAT1 962 100% .

MND1 683 100% .

MNDA 1248 100% .

MNS1 1528 100% .

MNT 1773 91% .

MNX1 1277 60% Currarino Syndrome

MOAP1 1060 100% .

MOB1A 713 100% .

MOB1B 708 95% .

MOB2 829 86% .

MOB3A 666 100% .

MOB3B 663 100% .

MOB3C 842 100% .

MOB4 710 96% .

MOBP 258 100% .

MOCOS 2727 96% .

MOCS1 1368 92% Molybdenum Cofactor Deficiency

MOCS2 782 97% Molybdenum Cofactor Deficiency

MOCS3 1387 100%MOCS3 1387 100% .

MOG 1089 94% .

MOGAT1 1051 97% .

MOGAT2 1029 100% .

MOGAT3 1159 100% .

MOGS 2530 94% Congenital Disorders of Glycosylation

MOGS 2530 94% MOGS‐CDG (CDG‐IIb)

MOK 1308 100% .

MON1A 1983 99% .

MON1B 1674 100% .

MON2 5328 100% .

MORC1 3067 100% .

MORC2 3055 100% .

MORC3 2891 100% .





MORC4 2882 97% .

MORF4L1 1141 97% .

MORF4L2 871 100% .

MORN1 1606 82% .

MORN2 248 100% .

MORN3 743 99% .

MORN4 531 100% .

MORN5 506 100% .

MOS 1045 100% .

MOSPD1 694 100% .

MOSPD2 1617 100% .

MOSPD3 798 100% .

MOV10 3092 100% .

MOV10L1 4034 96% .

MOXD1 1950 96% .

MPDU1 1069 100% Congenital Disorders of Glycosylation

MPDU1 1069 100% MPDU1‐CDG (CDG‐If)

MPDZ 6332 100% .

MPEG1 2155 100%MPEG1 2155 100% .

MPG 941 97% .

MPHOSPH10 2090 100% .

MPHOSPH6 503 100% .

MPHOSPH8 2639 100% .

MPHOSPH9 3176 100% .

MPI 1480 99% Congenital Disorders of Glycosylation

MPI 1480 99% MPI‐CDG (CDG‐Ib)

MPL 2041 94% Amegakaryocytic Thrombocytopenia, Congenital

MPND 1568 77% .

MPO 2378 100% .

MPP1 1602 90% .

MPP2 1707 100% .

MPP3 1905 97% .





MPP4 2019 100% Retinitis Pigmentosa, Autosomal Recessive

MPP5 2080 100% .

MPP6 1667 100% .

MPP7 1795 100% .

MPPE1 1230 100% .

MPPED1 1005 88% .

MPPED2 990 100% .

MPRIP 3246 100% .

MPST 975 84% .

MPV17 639 100% Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form

MPV17 639 100% MPV17‐ Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form

MPV17L 607 57% .

MPV17L2 1036 70% .

MPZ 808 100% Charcot‐Marie‐Tooth Neuropathy Type 1

MPZ 808 100% Charcot‐Marie‐Tooth Neuropathy Type 1B

MPZ 808 100% Charcot‐Marie‐Tooth Neuropathy Type 2

MPZ 808 100% Charcot‐Marie‐Tooth Neuropathy Type 2I

MPZ 808 100% Charcot‐Marie‐Tooth Neuropathy Type 2J

MPZ 808 100% Congenital HypomyelinationMPZ 808 100% Congenital Hypomyelination

MPZ 808 100% MPZ‐Related Intermediate Charcot‐Marie‐Tooth Neuropathy

MPZL1 847 89% .

MPZL2 668 100% .

MPZL3 732 100% .

MR1 1109 100% .

MRAP 644 100% Glucocorticoid Deficiency 2

MRAP2 630 100% .

MRAS 647 100% .

MRC1 8982 30% .

MRC2 4560 95% .

MRE11A 2203 100% .

MREG 665 88% .

MRFAP1 388 100% .





MRFAP1L1 388 100% .

MRGPRD 970 100% .

MRGPRE 943 91% .

MRGPRF 1040 77% .

MRGPRG 874 38% .

MRGPRX1 973 100% .

MRGPRX2 997 100% .

MRGPRX3 973 100% .

MRGPRX4 973 100% .

MRI1 1227 78% .

MRM1 1082 100% .

MRO 920 84% .

MRP63 313 100% .

MRPL1 1017 100% .

MRPL10 987 76% .

MRPL11 676 100% .

MRPL12 617 88% .

MRPL13 565 100% .

MRPL14 446 100%MRPL14 446 100% .

MRPL15 911 88% .

MRPL16 772 100% .

MRPL17 540 100% .

MRPL18 559 100% .

MRPL19 903 96% .

MRPL2 1078 81% .

MRPL20 466 100% .

MRPL21 936 85% .

MRPL22 649 100% .

MRPL23 482 97% .

MRPL24 671 100% .

MRPL27 523 100% .

MRPL28 800 99% .





MRPL3 1087 100% .

MRPL30 603 100% .

MRPL32 591 100% .

MRPL33 288 100% .

MRPL34 287 90% .

MRPL35 588 100% .

MRPL36 316 100% .

MRPL37 1300 100% .

MRPL38 1179 96% .

MRPL39 1150 100% .

MRPL4 1025 100% .

MRPL40 637 91% .

MRPL41 418 100% .

MRPL42 449 100% .

MRPL43 1798 99% .

MRPL44 1015 100% .

MRPL45 953 99% .

MRPL46 879 100% .

MRPL47 781 100%MRPL47 781 100% .

MRPL48 671 100% .

MRPL49 517 100% .

MRPL50 485 100% .

MRPL51 399 100% .

MRPL52 392 100% .

MRPL53 351 100% .

MRPL54 429 100% .

MRPL55 512 94% .

MRPL9 853 99% .

MRPS10 634 99% .

MRPS11 609 100% .

MRPS12 425 100% .

MRPS14 399 100% .





MRPS15 806 100% .

MRPS16 426 100% Combined Oxidative Phosphorylation Deficiency

MRPS16 426 100% Combined Oxidative Phosphorylation Deficiency 2

MRPS17 418 100% .

MRPS18A 833 98% .

MRPS18B 847 95% .

MRPS18C 453 100% .

MRPS2 992 94% .

MRPS21 272 100% .

MRPS22 1146 100% Combined Oxidative Phosphorylation Deficiency 5

MRPS23 593 100% .

MRPS24 571 77% .

MRPS25 661 99% .

MRPS26 634 81% .

MRPS27 1394 100% .

MRPS28 576 100% .

MRPS30 1340 100% .

MRPS31 1216 100% .

MRPS33 329 100%MRPS33 329 100% .

MRPS34 690 58% .

MRPS35 1006 100% .

MRPS36 328 100% .

MRPS5 1341 97% .

MRPS6 390 100% .

MRPS7 749 100% .

MRPS9 1235 100% .

MRRF 831 100% .

MRS2 1382 100% .

MRTO4 752 98% .

MRVI1 2796 100% .

MS4A1 918 100% .

MS4A10 832 100% .





MS4A12 828 100% .

MS4A13 479 100% .

MS4A14 2060 100% .

MS4A15 747 88% .

MS4A2 814 100% .

MS4A3 669 100% .

MS4A4A 748 100% .

MS4A5 623 100% .

MS4A6A 943 100% .

MS4A6E 456 100% .

MS4A7 747 100% .

MS4A8B 816 100% .

MSC 629 100% .

MSGN1 586 100% .

MSH2 2869 99% Hereditary Non‐Polyposis Colon Cancer

MSH2 2869 99% MSH2‐Related Hereditary Non‐Polyposis Colon Cancer

MSH2 2869 99% MSH2‐Related Muir‐Torre Syndrome

MSH2 2869 99% MSH2‐Related Turcot Syndrome

MSH3 3510 100%MSH3 3510 100% .

MSH4 2891 100% .

MSH5 2852 92% .

MSH6 4123 100% Hereditary Non‐Polyposis Colon Cancer

MSH6 4123 100% MSH6‐Related Hereditary Non‐Polyposis Colon Cancer

MSH6 4123 100% MSH6‐Related Turcot Syndrome

MSI1 1145 86% .

MSI2 1188 94% .

MSL1 1109 100% .

MSL2 1742 100% .

MSL3 1768 98% .

MSLN 2052 98% .

MSLNL 3226 87% .

MSMB 361 100% .





MSMO1 906 100% .

MSMP 432 100% .

MSN 1786 99% .

MSR1 1444 100% .

MSRA 749 98% .

MSRB2 569 82% .

MSRB3 683 97% .

MST1 2296 100% .

MST1R 4315 99% .

MST4 1295 99% .

MSTN 1140 100% Myostatin‐Related Muscle Hypertrophy

MSTO1 1769 87% .

MSX1 920 73% Cleft Lip +/‐ Cleft Palate

MSX1 920 73% Orofacial Cleft 5

MSX1 920 73% Tooth Agenesis, Selective, 1

MSX1 920 73% Tooth‐and‐Nail Syndrome

MSX2 838 83% Enlarged Parietal Foramina/Cranium Bifidum

MSX2 838 83% MSX2‐Related Craniosynostosis

MSX2 838 83% Parietal Foramina 1MSX2 838 83% Parietal Foramina 1

MT1A 198 100% .

MT1B 198 100% .

MT1E 488 100% .

MT1F 201 100% .

MT1G 365 100% .

MT1H 198 100% .

MT1M 198 100% .

MT1X 387 100% .

MT2A 198 100% .

MT3 219 100% .

MT4 201 100% .

MTA1 2232 94% .

MTA2 2079 100% .





MTA3 1604 98% .

MTAP 909 100% .

MTBP 2870 100% .

MTCH1 1570 80% .

MTCH2 964 99% .

MTCP1 336 100% .

MTCP1NB 215 100% .

MTDH 1797 100% .

MTERF 1208 100% .

MTERFD1 1282 100% .

MTERFD2 1216 98% .

MTERFD3 1162 100% .

MTF1 2302 100% .

MTF2 1842 100% .

MTFMT 1206 83% .

MTFP1 713 90% .

MTFR1 1144 100% .

MTG1 1049 87% .

MTHFD1 2916 100%MTHFD1 2916 100% .

MTHFD1L 3101 91% .

MTHFD2 1085 100% .

MTHFD2L 1076 86% .

MTHFR 2084 100% MTHFR Deficiency

MTHFR 2084 100% MTHFR Thermolabile Variant

MTHFR 2084 100% Neural Tube Defects, Folate‐Sensitive

MTHFS 624 81% .

MTHFSD 1302 95% .

MTIF2 2236 100% .

MTIF3 849 100% .

MTL5 1627 100% .

MTM1 1888 100% Myotubular Myopathy, X‐Linked

MTMR1 2058 93% .





MTMR10 2398 98% .

MTMR11 2237 97% .

MTMR12 2308 100% .

MTMR14 2029 98% .

MTMR2 1992 97% Charcot‐Marie‐Tooth Neuropathy Type 4

MTMR2 1992 97% Charcot‐Marie‐Tooth Neuropathy Type 4B1

MTMR3 3700 100% .

MTMR4 3660 100% .

MTMR6 1922 100% .

MTMR7 2039 99% .

MTMR8 2171 100% .

MTMR9 1690 100% .

MTNR1A 1061 90% .

MTNR1B 1097 100% .

MTO1 2330 92% .

MTOR 7878 100% .

MTPAP 1797 100% .

MTPN 373 100% .

MTR 4313 96% cblGMTR 4313 96% cblG

MTR 4313 96% Disorders of Intracellular Cobalamin Metabolism

MTRF1 1382 100% .

MTRF1L 1286 98% .

MTRNR2L1 1 0% .

MTRNR2L10 1 0% .

MTRNR2L2 1 0% .

MTRNR2L3 1 0% .

MTRNR2L4 1 0% .

MTRNR2L5 1 0% .

MTRNR2L6 1 0% .

MTRNR2L7 1 0% .

MTRNR2L8 1 0% .

MTRR 2264 100% cblE





MTRR 2264 100% Disorders of Intracellular Cobalamin Metabolism

MTSS1 2326 100% .

MTSS1L 2304 88% .

MTTP 2820 100% Abetalipoproteinemia

MTUS1 4188 100% .

MTUS2 4324 95% .

MTX1 1453 63% .

MTX2 832 99% .

MTX3 975 93% .

MUC1 1829 77% .

MUC12 16102 83% .

MUC13 1580 100% .

MUC15 1102 96% .

MUC16 39138 100% .

MUC17 13534 100% .

MUC2 8650 99% .

MUC20 2146 75% .

MUC21 1735 99% .

MUC22 34 0%MUC22 34 0% .

MUC4 16357 99% .

MUC5B 17733 97% .

MUC6 7452 97% .

MUC7 1142 100% .

MUCL1 289 100% .

MUDENG 1640 100% .

MUL1 1075 99% .

MUM1 2254 82% .

MUM1L1 2095 100% .

MURC 1103 100% .

MUS81 1907 97% .

MUSK 2813 100% Congenital Myasthenic Syndromes

MUSK 2813 100% MUSK‐Related Congenital Myasthenic Syndrome





MUSTN1 316 100% .

MUT 2301 100% Methylmalonic Acidemia

MUT 2301 100% MUT‐Related Methylmalonic Acidemia

MUTED 585 100% .

MUTYH 1764 100% MYH‐Associated Polyposis

MVD 1243 86% .

MVK 1231 100% Hyper IgD Syndrome

MVK 1231 100% Mevalonicaciduria

MVP 2738 99% .

MX1 2041 100% .

MX2 2200 100% .

MXD1 690 89% .

MXD3 1190 62% .

MXD4 654 90% .

MXI1 989 91% .

MXRA5 8511 99% .

MXRA7 1157 70% .

MXRA8 1387 81% .

MYADM 973 100%MYADM 973 100% .

MYADML2 928 76% .

MYB 2376 99% .

MYBBP1A 4131 98% .

MYBL1 2327 100% .

MYBL2 2159 99% .

MYBPC1 3753 99% .

MYBPC2 3538 100% .

MYBPC3 3951 100% Dilated Cardiomyopathy

MYBPC3 3951 100% Familial Hypertrophic Cardiomyopathy

MYBPC3 3951 100% MYBPC3‐Related Dilated Cardiomyopathy

MYBPC3 3951 100% MYBPC3‐Related Familial Hypertrophic Cardiomyopathy

MYBPH 1474 100% .

MYBPHL 1097 100% .





MYC 1377 100% .

MYCBP 332 98% .

MYCBP2 14255 100% .

MYCBPAP 3076 99% .

MYCL1 1322 84% .

MYCN 1520 96% Feingold Syndrome

MYCT1 716 100% .

MYD88 974 100% .

MYEF2 1871 97% .

MYEOV 950 100% .

MYEOV2 783 96% .

MYF5 780 100% .

MYF6 741 100% .

MYH1 5972 100% .

MYH10 6291 100% .

MYH11 6260 100% MYH11‐Related Thoracic Aortic Aneurysms and Aortic Dissections

MYH11 6260 100% Thoracic Aortic Aneurysms and Aortic Dissections

MYH13 5973 100% .

MYH14 6374 97% DFNA 4 Nonsyndromic Hearing Loss and DeafnessMYH14 6374 97% DFNA 4 Nonsyndromic Hearing Loss and Deafness

MYH14 6374 97% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

MYH15 6009 100% .

MYH2 5997 100% Inclusion Body Myopathy 3

MYH3 5979 100% Arthrogryposis Multiplex Congenita, Distal, Type 2B

MYH3 5979 100% Freeman‐Sheldon Syndrome

MYH3 5979 100% MYH3‐Related Arthrogryposis Multiplex Congenita, Distal, Type 2B

MYH4 5972 100% .

MYH6 5968 100% Familial Hypertrophic Cardiomyopathy

MYH6 5968 100% MYH6‐Related Familial Hypertrophic Cardiomyopathy

MYH7 5960 100% Dilated Cardiomyopathy

MYH7 5960 100% Familial Hypertrophic Cardiomyopathy

MYH7 5960 100% Laing Distal Myopathy

MYH7 5960 100% Left Ventricular Noncompaction 5





MYH7 5960 100% MYH7‐Related Dilated Cardiomyopathy

MYH7 5960 100% MYH7‐Related Familial Hypertrophic Cardiomyopathy

MYH7 5960 100% MYH7‐Related Myosin Storage Myopathy

MYH7 5960 100% Scapuloperoneal Myopathy, MYH7‐Related

MYH7B 6362 97% .

MYH8 5966 100% Trismus‐Pseudocamptodactyly Syndrome

MYH9 6043 100% DFNA17 Nonsyndromic Hearing Loss and Deafness

MYH9 6043 100% Epstein Syndrome

MYH9 6043 100% Fechtner Syndrome

MYH9 6043 100% May‐Hegglin Anomaly

MYH9 6043 100% MYH9‐Related Disorders

MYH9 6043 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

MYH9 6043 100% Sebastian Syndrome

MYL1 645 100% .

MYL10 713 74% .

MYL12A 528 100% .

MYL12B 531 100% .

MYL2 529 100% Familial Hypertrophic Cardiomyopathy

MYL2 529 100% MYL2 Related Familial Hypertrophic CardiomyopathyMYL2 529 100% MYL2‐Related Familial Hypertrophic Cardiomyopathy

MYL3 612 100% Familial Hypertrophic Cardiomyopathy

MYL3 612 100% MYL3‐Related Familial Hypertrophic Cardiomyopathy

MYL4 618 100% .

MYL5 1081 98% .

MYL6 513 100% .

MYL6B 803 100% .

MYL7 1002 100% .

MYL9 531 100% .

MYLIP 1366 96% .

MYLK 5869 98% .

MYLK2 1839 97% .

MYLK3 2512 100% .

MYLK4 1267 100% .





MYLPF 538 100% .

MYNN 1861 100% .

MYO10 6396 100% .

MYO15A 11268 92% DFNB 3 Nonsyndromic Hearing Loss and Deafness

MYO15A 11268 92% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

MYO16 5756 97% .

MYO18A 6329 100% .

MYO18B 7930 100% .

MYO19 3009 100% .

MYO1A 3240 100% DFNA48 Nonsyndromic Hearing Loss and Deafness

MYO1A 3240 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

MYO1B 3587 100% .

MYO1C 3342 98% .

MYO1D 3109 99% .

MYO1E 3439 98% .

MYO1F 3544 99% .

MYO1G 3228 91% .

MYO1H 31 0% .

MYO3A 5005 100% DFNB30 Nonsyndromic Hearing Loss and DeafnessMYO3A 5005 100% DFNB30 Nonsyndromic Hearing Loss and Deafness


MYO3B 4189 100% .

MYO5A 5732 99% .

MYO5B 5707 99% Diarrhea with Microvillus Atrophy 2

MYO5C 5393 99% .

MYO6 3997 100% DFNA22 Nonsyndromic Hearing Loss and Deafness

MYO6 3997 100% DFNB37 Nonsyndromic Hearing Loss and Deafness

MYO6 3997 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

MYO6 3997 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

MYO7A 6983 95% DFNA11 Nonsyndromic Hearing Loss and Deafness

MYO7A 6983 95% DFNB 2 Nonsyndromic Hearing Loss and Deafness

MYO7A 6983 95% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant






MYO7A 6983 95% Usher Syndrome Type 1

MYO7A 6983 95% Usher Syndrome Type 1B

MYO7B 6650 97% .

MYO9A 7811 100% .

MYO9B 6645 99% .

MYOC 1527 100% Glaucoma, Dominant (Juvenile Onset)

MYOC 1527 100% Primary Open Angle Glaucoma (Adult Onset)

MYOCD 3029 100% .

MYOD1 975 100% .

MYOF 6458 100% .

MYOG 687 98% .

MYOM1 5206 100% .

MYOM2 4542 100% .

MYOM3 4758 99% .

MYOT 1533 100% Limb‐Girdle Muscular Dystrophies, Autosomal Dominant

MYOT 1533 100% Limb‐Girdle Muscular Dystrophy Type 1A

MYOT 1533 100% Myofibrillar Myopathy

MYOT 1533 100% Myotilinopathy

MYOT 1533 100% Spheroid Body MyopathyMYOT 1533 100% Spheroid Body Myopathy

MYOZ1 920 100% .

MYOZ2 815 100% .

MYOZ3 780 100% .

MYPN 4081 100% .

MYPOP 1208 61% .

MYRIP 2644 100% .

MYSM1 2567 100% .

MYT1 3514 100% .

MYT1L 3647 97% .

MYZAP 1453 95% .

MZB1 861 99% .

MZF1 2225 96% .

MZT1 261 100% .





MZT2A 489 61% .

MZT2B 554 61% .

N4BP1 2719 93% .

N4BP2 5377 100% .

N4BP2L1 825 99% .

N4BP2L2 3633 100% .

N4BP3 1651 100% .

N6AMT1 669 100% .

N6AMT2 661 100% .

NAA10 824 97% .

NAA11 694 100% .

NAA15 2681 100% .

NAA16 2708 100% .

NAA20 582 100% .

NAA25 3057 98% .

NAA30 1105 100% .

NAA35 2266 100% .

NAA38 344 83% .

NAA40 752 100%NAA40 752 100% .

NAA50 535 100% .

NAA60 829 100% .

NAAA 1228 97% .

NAALAD2 2299 100% .

NAALADL1 2553 99% .

NAALADL2 2451 100% .

NAB1 1492 100% .

NAB2 1606 90% .

NACA 6269 100% .

NACA2 1 0% .

NACAD 4721 75% .

NACC1 1604 94% .

NACC2 1784 49% .





NADK 1999 95% .

NADKD1 1377 91% .

NADSYN1 2205 98% .

NAE1 1733 98% .

NAF1 1658 91% .

NAGA 1272 98% Kanzaki disease

NAGA 1272 98% Schindler Disease

NAGK 1214 86% .

NAGLU 2256 83% Mucopolysaccharidosis Type IIIB

NAGPA 1588 89% .

NAGS 1633 84% N‐Acetylglutamate Synthase Deficiency

NAIF1 992 100% .

NAIP 4458 15% .

NALCN 5389 100% .

NAMPT 1538 97% .

NANOG 934 100% .

NANOGNB 583 90% .

NANOS1 883 42% .

NANOS2 421 100%NANOS2 421 100% .

NANOS3 587 100% .

NANP 755 100% .

NANS 1183 100% .

NAP1L1 1232 100% .

NAP1L2 1387 100% .

NAP1L3 1525 100% .

NAP1L4 1220 100% .

NAP1L5 553 100% .

NAPA 932 100% .

NAPB 956 94% .

NAPEPLD 1214 100% .

NAPG 987 100% .

NAPRT1 1830 87% .





NAPSA 1299 100% .

NARF 1571 92% .

NARFL 1475 92% .

NARG2 3009 100% .

NARS 1766 100% .

NARS2 1490 99% .

NASP 2427 99% .

NAT1 879 100% .

NAT10 3190 100% .

NAT14 629 68% .

NAT16 1149 91% .

NAT2 877 100% .

NAT6 935 100% .

NAT8 688 100% .

NAT8B 1 0% .

NAT8L 657 82% .

NAT9 648 100% .

NAV1 5840 98% .

NAV2 7619 100%NAV2 7619 100% .

NAV3 7248 100% .

NBAS 7324 100% .

NBEA 9065 100% .

NBEAL1 8307 100% .

NBEAL2 8523 99% .

NBL1 754 94% .

NBN 2329 100% Nijmegen Breakage Syndrome

NBPF1 23 0% .

NBPF10 7857 59% .

NBPF11 5882 10% .

NBPF14 2886 80% .

NBPF15 2073 60% .

NBPF16 4146 48% .





NBPF24 5880 10% .

NBPF3 2033 98% .

NBPF4 1973 31% .

NBPF6 2064 35% .

NBPF7 8 0% .

NBPF9 1903 88% .

NBR1 2981 97% .

NCALD 609 100% .

NCAM1 2957 100% .

NCAM2 2586 100% .

NCAN 4022 98% .

NCAPD2 4330 100% .

NCAPD3 4637 100% .

NCAPG 3138 97% .

NCAPG2 3540 100% .

NCAPH 2304 97% .

NCAPH2 2013 91% .

NCBP1 2573 100% .

NCBP2 543 100%NCBP2 543 100% .

NCCRP1 852 70% .

NCDN 2218 97% .

NCEH1 1367 100% .

NCF1 1480 60% Chronic Granulomatous Disease

NCF1 1480 60% Chronic Granulomatous Disease, Autosomal Recessive Cytochrome b‐Positive, Type I

NCF2 1901 100% Chronic Granulomatous Disease

NCF2 1901 100% Chronic Granulomatous Disease, Autosomal Recessive Cytochrome b‐Positive, Type II

NCF4 1301 97% .

NCK1 1184 97% .

NCK2 1155 100% .

NCKAP1 3533 100% .

NCKAP1L 3508 100% .

NCKAP5 5803 100% .





NCKAP5L 4127 100% .

NCKIPSD 2325 89% .

NCL 2189 100% .

NCLN 1752 83% .

NCOA1 4451 100% .

NCOA2 4479 100% .

NCOA3 4389 100% .

NCOA4 2028 95% .

NCOA5 1768 100% .

NCOA6 6251 100% .

NCOA7 3071 100% .

NCOR1 7566 100% .

NCOR2 7770 89% .

NCR1 943 100% .

NCR2 998 100% .

NCR3 787 95% .

NCS1 615 87% .

NCSTN 2261 100% .

NDC80 1993 100%NDC80 1993 100% .

NDE1 1228 100% .

NDEL1 1129 100% .

NDFIP1 694 90% .

NDFIP2 1039 70% .

NDN 970 100% .

NDNF 1719 100% .

NDNL2 919 100% .

NDOR1 1877 99% .

NDP 410 91% Familial Exudative Vitreoretinopathy

NDP 410 91% NDP‐Related Retinopathies

NDRG1 1245 92% Charcot‐Marie‐Tooth Neuropathy Type 4

NDRG1 1245 92% Charcot‐Marie‐Tooth Neuropathy Type 4D

NDRG2 1179 100% .





NDRG3 1191 100% .

NDRG4 1456 83% .

NDST1 2810 100% .

NDST2 2782 100% .

NDST3 2674 100% .

NDST4 2671 100% .

NDUFA1 225 100% Leigh Syndrome (nuclear DNA mutation)

NDUFA1 225 100% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes)

NDUFA10 1167 93% .


NDUFA12 454 100% .

NDUFA13 704 96% .


NDUFA3 281 100% .

NDUFA4 262 100% .

NDUFA4L2 280 95% .

NDUFA5 1078 100% .

NDUFA6 477 100% .

NDUFA7 358 93%NDUFA7 358 93% .

NDUFA8 535 100% .

NDUFA9 1178 99% .

NDUFAB1 487 100% .

NDUFAF1 1000 100% .

NDUFAF2 572 100% Leigh Syndrome (nuclear DNA mutation)

NDUFAF2 572 100% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes)

NDUFAF3 575 100% .

NDUFAF4 540 100% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes)

NDUFB1 330 100% .

NDUFB10 535 91% .

NDUFB11 519 88% .

NDUFB2 330 99% .

NDUFB3 305 100% .





NDUFB4 468 100% .

NDUFB5 613 100% .

NDUFB6 403 100% .

NDUFB7 426 65% .

NDUFB8 581 100% .

NDUFB9 556 100% .

NDUFC1 243 84% .

NDUFC2 373 89% .

NDUFC2‐KCTD14 1001 96% .

NDUFS1 2317 98% Leigh Syndrome (nuclear DNA mutation)

NDUFS1 2317 98% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes)





NDUFS5 329 100% .



NDUFS7 1551 77% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes)NDUFS7 1551 77% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes)



NDUFV1 1435 99% Leigh Syndrome (nuclear DNA mutation)

NDUFV1 1435 99% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes)

NDUFV2 782 97% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes)

NDUFV3 1438 96% .

NEB 24140 91% NEB‐Related Nemaline Myopathy

NEB 24140 91% Nemaline Myopathy

NEBL 3549 100% .

NECAB1 1108 96% .

NECAB2 1213 83% .

NECAB3 1239 76% .

NECAP1 860 100% .





NECAP2 953 100% .

NEDD1 2064 99% .

NEDD4 4671 98% .

NEDD4L 3080 99% .

NEDD8 262 100% .

NEDD8‐MDP1 610 100% .

NEDD9 2619 100% .

NEFH 3079 77% .

NEFL 1649 100% Charcot‐Marie‐Tooth Neuropathy Type 1

NEFL 1649 100% Charcot‐Marie‐Tooth Neuropathy Type 1F/2E

NEFL 1649 100% Charcot‐Marie‐Tooth Neuropathy Type 2

NEFL 1649 100% Charcot‐Marie‐Tooth Neuropathy Type 2E/1F

NEFM 2763 99% .

NEGR1 1093 100% .

NEIL1 1209 100% .

NEIL2 1020 100% .

NEIL3 1858 100% .

NEK1 4003 100% .

NEK10 2320 98%NEK10 2320 98% .

NEK11 2023 100% .

NEK2 1415 100% .

NEK3 1655 100% .

NEK4 2641 93% .

NEK5 2207 96% .

NEK6 1086 100% .

NEK7 945 100% .

NEK8 2139 98% Nephronophthisis 9

NEK9 3028 93% .

NELF 1805 85% .

NELL1 2520 100% .

NELL2 2744 95% .

NEMF 3363 100% .





NENF 535 66% .

NEO1 4562 97% .

NES 4882 98% .

NET1 1936 94% .

NETO1 1680 100% .

NETO2 1614 98% .

NEU1 1314 97% Mucolipidosis I

NEU2 1151 100% .

NEU3 1398 93% .

NEU4 1510 98% .

NEURL 1749 79% .

NEURL1B 1688 36% .

NEURL2 866 98% .

NEURL4 4805 99% .

NEUROD1 1075 100% Maturity‐Onset Diabetes of the Young Type 6

NEUROD2 1153 99% .

NEUROD4 1000 100% .

NEUROD6 1018 100% .

NEUROG1 718 100%NEUROG1 718 100% .

NEUROG2 823 100% .

NEUROG3 649 100% .

NEXN 2076 100% .

NF1 8836 99% Familial Spinal Neurofibromatosis

NF1 8836 99% Neurofibromatosis 1

NF1 8836 99% Neurofibromatosis‐Noonan Syndrome

NF1 8836 99% Watson Syndrome

NF2 1892 97% Neurofibromatosis 2

NFAM1 837 96% .

NFASC 4474 98% .

NFAT5 4706 100% .

NFATC1 2967 94% .

NFATC2 2940 97% .





NFATC2IP 1292 71% .

NFATC3 3498 97% .

NFATC4 3270 94% .

NFE2 1130 100% .

NFE2L1 2396 100% .

NFE2L2 1910 97% .

NFE2L3 2101 81% .

NFIA 1773 91% .

NFIB 1673 100% .

NFIC 1578 99% .

NFIL3 1393 100% .

NFIX 1406 98% .

NFKB1 3009 100% .

NFKB2 2886 91% .

NFKBIA 978 100% .

NFKBIB 1143 99% .

NFKBID 1178 97% .

NFKBIE 1527 68% .

NFKBIL1 1198 87%NFKBIL1 1198 87% .

NFKBIZ 2205 90% .

NFRKB 4075 100% .

NFS1 1426 93% .

NFU1 798 100% .

NFX1 3583 98% .

NFXL1 2824 93% .

NFYA 1080 100% .

NFYB 652 100% .

NFYC 1482 100% .

NGB 472 69% .

NGDN 1000 100% .

NGEF 2317 95% .

NGF 730 100% Hereditary Sensory and Autonomic Neuropathy Type V





NGFR 1308 95% .

NGFRAP1 340 100% .

NGLY1 2118 99% .

NGRN 888 100% .

NHEJ1 1004 100% .

NHLH1 406 100% .

NHLH2 412 100% .

NHLRC1 1192 100% NHLRC1‐Related Lafora Disease

NHLRC1 1192 100% Progressive Myoclonus Epilepsy, Lafora Type

NHLRC2 2225 93% .

NHLRC3 1072 100% .

NHLRC4 860 100% .

NHP2 540 100% Dyskeratosis Congenita

NHP2 540 100% NHP2‐Related Dyskeratosis Congenita

NHP2L1 406 100% .

NHS 5060 90% .

NHSL1 5185 100% .

NHSL2 2552 84% .

NICN1 666 100%NICN1 666 100% .

NID1 3824 99% .

NID2 4333 100% .

NIF3L1 1226 100% .

NIM1 1323 100% .

NIN 6666 97% .

NINJ1 471 87% .

NINJ2 698 100% .

NINL 4241 100% .

NIP7 563 100% .

NIPA1 1010 92% Spastic Paraplegia 6

NIPA2 1103 100% .

NIPAL1 1257 99% .

NIPAL2 1228 89% .





NIPAL3 1265 100% .

NIPAL4 1425 89% Autosomal Recessive Congenital Ichthyosis

NIPAL4 1425 89% NIPAL4‐Related Autosomal Recessive Congenital Ichthyosis

NIPBL 8644 100% Cornelia de Lange Syndrome

NIPBL 8644 100% NIPBL‐Related Cornelia de Lange Syndrome

NIPSNAP1 896 81% .

NIPSNAP3A 768 100% .

NIPSNAP3B 768 99% .

NISCH 4823 98% .

NIT1 1398 100% .

NIT2 1199 83% .

NKAIN1 652 89% .

NKAIN2 748 100% .

NKAIN3 495 100% .

NKAIN4 659 59% .

NKAP 1284 100% .

NKAPL 1213 100% .

NKD1 1453 92% .

NKD2 1629 83%NKD2 1629 83% .

NKG7 514 100% .

NKIRAS1 595 100% .

NKIRAS2 588 100% .

NKPD1 2515 68% .

NKRF 2082 100% .

NKTR 4453 100% .

NKX1‐2 2 0% .

NKX2‐1 1218 87% Benign Hereditary Chorea

NKX2‐1 1218 87% Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress

NKX2‐2 830 100% .

NKX2‐3 1103 71% .

NKX2‐4 1073 64% .

NKX2‐5 1110 89% Heterotaxy Syndrome





NKX2‐5 1110 89% Isolated Nonsyndromic Congenital Heart Disease/Defects

NKX2‐6 914 70% .

NKX2‐8 728 86% .

NKX3‐1 713 92% .

NKX3‐2 1010 96% .

NKX6‐1 1116 78% .

NKX6‐2 846 70% .

NKX6‐3 416 100% .

NLE1 1514 100% .

NLGN1 2492 100% .

NLGN2 2536 88% .

NLGN3 2575 100% Autism Spectrum Disorders

NLGN3 2575 100% Autistic Disorder

NLGN4X 2471 100% Autism Spectrum Disorders

NLGN4X 2471 100% Autistic Disorder

NLGN4Y 2625 99% .

NLK 1628 100% .

NLN 2475 96% .

NLRC3 3452 95%NLRC3 3452 95% .

NLRC4 3107 100% .

NLRC5 5853 99% .

NLRP1 4565 97% .

NLRP10 1976 100% .

NLRP11 3138 100% .

NLRP12 3328 98% Familial Cold Autoinflammatory Syndrome 2

NLRP13 3176 100% .

NLRP14 3326 100% .

NLRP2 3237 100% .

NLRP3 3147 100% Chronic Infantile Neurological Cutaneous and Articular Syndrome

NLRP3 3147 100% Familial Cold Autoinflammatory Syndrome 1

NLRP3 3147 100% Muckle‐Wells Syndrome

NLRP4 3076 100% .





NLRP5 3663 100% .

NLRP6 2711 81% .

NLRP7 3193 100% Hydatidiform Mole, Recurrent

NLRP8 3187 100% .

NLRP9 3012 100% .

NLRX1 3336 100% .

NMB 482 97% .

NMBR 1185 100% .

NMD3 1572 100% .

NME1 554 100% .

NME1‐NME2 836 100% .

NME2 479 100% .

NME3 530 86% .

NME4 584 84% .

NME5 659 100% .

NME6 609 100% .

NME7 1179 100% .

NME9 861 100% .

NMI 952 100%NMI 952 100% .

NMNAT1 856 100% .

NMNAT2 1042 99% .

NMNAT3 775 100% .

NMRAL1 920 100% .

NMS 502 100% .

NMT1 1539 100% .

NMT2 1561 100% .

NMU 561 81% .

NMUR1 1293 99% .

NMUR2 1264 100% .

NNAT 258 87% .

NNMT 807 100% .

NNT 3345 100% .





NOA1 2125 100% .

NOB1 1275 100% .

NOBOX 2120 97% .

NOC2L 2326 98% .

NOC3L 2487 100% .

NOC4L 1611 83% .

NOD1 2906 100% .

NOD2 3182 98% Blau Syndrome

NOD2 3182 98% Crohn Disease

NODAL 1056 88% Heterotaxy Syndrome

NODAL 1056 88% Visceral Heterotaxy 5, Autosomal

NOG 703 100% Brachydactyly, Type B2

NOG 703 100% Multiple Synostoses Syndrome

NOG 703 100% Proximal Symphalangism

NOG 703 100% Stapes Ankylosis with Broad Thumb and Toes

NOG 703 100% Tarsal‐Carpal Coalition Syndrome

NOL10 2153 100% .

NOL11 2232 100% .

NOL12 666 99%NOL12 666 99% .

NOL3 690 94% .

NOL4 1962 100% .

NOL6 3545 99% .

NOL7 826 84% .

NOL8 3581 100% .

NOL9 2157 91% .

NOLC1 2185 100% .

NOM1 2627 86% .

NOMO1 3793 91% .

NOMO2 3936 40% .

NOMO3 3793 47% .

NONO 1456 99% .

NOP10 203 100% Dyskeratosis Congenita





NOP10 203 100% NOP10‐Related Dyskeratosis Congenita

NOP14 2646 98% .

NOP16 1001 100% .

NOP2 2631 100% .

NOP56 1920 100% .

NOP58 1650 100% .

NOS1 4523 100% .

NOS1AP 1615 100% .

NOS2 3566 97% .

NOS3 3956 90% Cardiovascular Disease Risk Factor (Nitric‐Oxide Synthase)

NOSIP 938 99% .

NOSTRIN 1760 100% .

NOTCH1 7804 92% Left Ventricular Outflow Tract Obstruction (LVOTO)

NOTCH2 7552 100% Alagille Syndrome

NOTCH2 7552 100% NOTCH2‐Related Alagille Syndrome

NOTCH2NL 763 100% .

NOTCH3 7098 82% CADASIL

NOTCH4 6372 96% .

NOTO 768 50%NOTO 768 50% .

NOTUM 1535 87% .

NOV 1094 100% .

NOVA1 1626 99% .

NOVA2 1495 84% .

NOX1 1747 100% .

NOX3 1759 100% .

NOX4 1809 100% .

NOX5 2430 100% .

NOXA1 1508 80% .

NOXO1 1163 82% .

NOXRED1 1175 100% .

NPAS1 1817 80% .

NPAS2 2583 100% .





NPAS3 2907 92% .

NPAS4 2441 100% .

NPAT 4360 100% .

NPB 386 37% .

NPBWR1 991 99% .

NPBWR2 1006 100% .

NPC1 3988 98% Niemann‐Pick Disease Type C

NPC1 3988 98% Niemann‐Pick Disease Type C1

NPC1L1 4160 96% .

NPC2 476 100% Niemann‐Pick Disease Type C

NPC2 476 100% Niemann‐Pick Disease Type C2

NPDC1 1360 81% .

NPEPL1 2035 85% .

NPEPPS 2852 99% .

NPFF 465 100% .

NPFFR1 1306 89% .

NPFFR2 1591 100% .

NPHP1 2343 100% Joubert Syndrome

NPHP1 2343 100% Nephronophthisis 1NPHP1 2343 100% Nephronophthisis 1

NPHP1 2343 100% NPHP1‐Related Joubert Syndrome

NPHP1 2343 100% Senior‐Loken Syndrome

NPHP1 2343 100% Senior‐Loken Syndrome 1

NPHP3 4101 100% Nephronophthisis 3

NPHP3 4101 100% Renal‐Hepatic‐Pancreatic Dysplasia

NPHP4 4397 100% Nephronophthisis 4

NPHP4 4397 100% Senior‐Loken Syndrome

NPHP4 4397 100% Senior‐Loken Syndrome 4

NPHS1 3842 98% Congenital Finnish Nephrosis

NPHS2 1184 94% Steroid‐Resistant Nephrotic Syndrome

NPIP 1085 42% .

NPIPL3 3887 34% .

NPL 1265 100% .





NPLOC4 2080 99% .

NPM1 942 100% .

NPM2 677 97% .

NPM3 557 100% .

NPNT 1895 88% .

NPPA 468 100% .

NPPB 498 100% .

NPPC 389 77% .

NPR1 3376 84% .

NPR2 3366 100% Acromesomelic Dysplasia, Maroteaux Type

NPR3 1783 93% .

NPRL2 1231 99% .

NPRL3 1761 95% .

NPS 282 100% .

NPSR1 1265 100% .

NPTN 1229 100% .

NPTX1 1319 90% .

NPTX2 1316 70% .

NPTXR 1523 64%NPTXR 1523 64% .

NPVF 603 100% .

NPW 506 48% .

NPY 306 100% .

NPY1R 1163 100% .

NPY2R 1150 100% .

NPY5R 1342 100% .

NQO1 849 100% .

NQO2 720 100% .

NR0B1 1421 98% 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis

NR0B1 1421 98% Complex Glycerol Kinase Deficiency

NR0B1 1421 98% Isolated X‐Linked Adrenal Hypoplasia Congenita

NR0B1 1421 98% NR0B1‐Related 46,XY DSD and 46,XY CGD

NR0B1 1421 98% X‐Linked Adrenal Hypoplasia Congenita





NR0B2 782 100% .

NR1D1 2040 100% .

NR1D2 1772 99% .

NR1H2 1415 90% .

NR1H3 1450 98% .

NR1H4 1580 100% .

NR1I2 1458 100% .

NR1I3 1401 100% .

NR2C1 1942 100% .

NR2C2 1950 100% .

NR2C2AP 440 100% .

NR2E1 1194 100% .

NR2E3 1270 96% Enhanced S‐Cone Syndrome

NR2E3 1270 96% NR2E3‐Related Retinitis Pigmentosa

NR2E3 1270 96% Retinitis Pigmentosa, Autosomal Recessive

NR2F1 1284 90% .

NR2F2 1304 91% .

NR2F6 1231 65% .

NR3C1 2421 100% Glucocorticoid ResistanceNR3C1 2421 100% Glucocorticoid Resistance

NR3C2 2999 100% Pseudohypoaldosteronism Type 1, Dominant

NR4A1 1947 100% .

NR4A2 1821 100% Parkinson Disease

NR4A3 2020 86% .

NR5A1 1410 97% 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis

NR5A1 1410 97% NR5A1‐Related 46,XY DSD and 46,XY CGD

NR5A2 1658 100% .

NR6A1 1483 92% .

NRAP 5385 100% .

NRARP 349 99% .

NRAS 586 100% Noonan Syndrome

NRAS 586 100% NRAS‐Related Noonan Syndrome

NRBF2 935 100% .





NRBP1 1676 100% .

NRBP2 1794 59% .

NRCAM 4047 100% .

NRD1 3792 100% .

NREP 364 61% .

NRF1 1552 100% .

NRG1 3653 88% .

NRG2 2702 66% .

NRG3 2371 97% .

NRG4 368 100% .

NRGN 245 96% .

NRIP1 3481 100% .

NRIP2 870 100% .

NRIP3 754 77% .

NRK 29 0% .

NRL 722 75% NRL‐Related Retinitis Pigmentosa

NRL 722 75% Retinitis Pigmentosa, Autosomal Dominant

NRM 829 86% .

NRN1 441 100%NRN1 441 100% .

NRN1L 510 100% .

NRP1 3178 98% .

NRP2 3176 100% .

NRSN1 596 100% .

NRSN2 623 100% .

NRTN 602 66% Hirschsprung Disease

NRTN 602 66% NRTN‐Related Hirschsprung Disease

NRXN1 4985 100% Pitt‐Hopkins‐Like Syndrome 2

NRXN2 5514 83% .

NRXN3 4379 97% .

NSA2 807 100% .

NSD1 8239 100% Sotos Syndrome

NSDHL 1150 100% NSDHL‐Related Disorders





NSF 2332 55% .

NSFL1C 1149 93% .

NSL1 959 91% .

NSMAF 3034 93% .

NSMCE1 838 100% .

NSMCE2 768 100% .

NSMCE4A 1198 81% .

NSRP1 1706 99% .

NSUN2 2380 97% .

NSUN3 1047 100% .

NSUN4 1179 100% .

NSUN5 1462 100% .

NSUN6 1454 100% .

NSUN7 2201 100% .

NT5C 626 73% .

NT5C1A 1131 100% .

NT5C1B 1924 100% .

NT5C1B‐RDH14 2546 100% .

NT5C2 1754 100%NT5C2 1754 100% .

NT5C3 1206 96% .

NT5C3L 912 100% .

NT5DC1 1481 100% .

NT5DC2 2037 88% .

NT5DC3 1703 88% .

NT5E 1805 100% .

NT5M 762 98% .

NTAN1 973 91% .

NTF3 821 100% .

NTF4 637 97% .

NTHL1 963 99% .

NTM 1203 100% .

NTN1 1839 79% .





NTN3 1767 72% .

NTN4 1927 97% .

NTN5 1523 79% .

NTNG1 1794 100% .

NTNG2 1625 92% .

NTPCR 593 100% .

NTRK1 2667 90% Hereditary Sensory and Autonomic Neuropathy Type IV

NTRK1 2667 90% NTRK1‐Related Familial Medullary Thyroid Carcinoma

NTRK2 2664 100% .

NTRK3 2854 100% .

NTS 529 100% .

NTSR1 1273 98% .

NTSR2 1249 81% .

NUAK1 2014 100% .

NUAK2 2047 100% .

NUB1 2091 100% .

NUBP1 1007 95% .

NUBP2 844 97% .

NUBPL 1005 99%NUBPL 1005 99% .

NUCB1 1586 100% .

NUCB2 1311 100% .

NUCKS1 760 100% .

NUDC 1032 92% .

NUDCD1 1827 98% .

NUDCD2 490 100% .

NUDCD3 1110 100% .

NUDT1 556 89% .

NUDT10 503 100% .

NUDT11 503 100% .

NUDT12 1413 100% .

NUDT13 1091 100% .

NUDT14 689 88% .





NUDT15 507 98% .

NUDT16 877 86% .

NUDT16L1 978 67% .

NUDT17 1022 86% .

NUDT18 1062 84% .

NUDT19 1140 86% .

NUDT2 452 100% .

NUDT21 712 100% .

NUDT22 932 100% .

NUDT3 539 100% .

NUDT4 566 79% .

NUDT5 797 100% .

NUDT6 1048 100% .

NUDT7 735 99% .

NUDT8 745 91% .

NUDT9 1085 100% .

NUF2 1447 100% .

NUFIP1 1528 100% .

NUFIP2 2104 100%NUFIP2 2104 100% .

NUMA1 6466 100% .

NUMB 1996 100% .

NUMBL 1870 82% .

NUP107 2890 100% .

NUP133 3575 100% .

NUP153 4516 100% .

NUP155 4324 99% .

NUP160 4609 100% .

NUP188 5588 99% .

NUP205 6211 100% .

NUP210 5824 100% .

NUP210L 5827 100% .

NUP214 6420 100% .





NUP35 1017 100% .

NUP37 1017 100% .

NUP43 1358 100% .

NUP50 1435 100% .

NUP54 1720 98% .

NUP62 1573 100% .

NUP62CL 621 100% .

NUP85 2173 100% .

NUP88 2294 100% .

NUP93 2544 100% .

NUP98 5613 100% .

NUPL1 1887 100% .

NUPL2 1300 100% .

NUPR1 311 100% .

NUS1 902 60% .

NUSAP1 1370 100% .

NUTF2 400 100% .

NVL 2665 100% .

NWD1 4657 99%NWD1 4657 99% .

NXF1 1999 100% .

NXF2 3930 30% .

NXF2B 3930 30% .

NXF3 1672 100% .

NXF5 1170 100% .

NXN 1341 95% .

NXNL1 647 77% .

NXNL2 589 81% .

NXPH1 824 100% .

NXPH2 803 94% .

NXPH3 767 96% .

NXPH4 935 99% .

NXT1 427 100% .





NXT2 614 100% .

NYAP1 2553 90% .

NYAP2 1986 100% .

NYNRIN 5729 100% .

NYX 1454 68% Congenital Stationary Night Blindness, X‐Linked

NYX 1454 68% NYX‐Related X‐Linked Congenital Stationary Night Blindness

O3FAR1 1150 97% .

OAF 838 89% .

OAS1 1462 100% .

OAS2 2290 100% .

OAS3 3328 100% .

OASL 1569 100% .

OAT 1356 100% Ornithine Aminotransferase Deficiency

OAZ1 708 100% .

OAZ2 585 100% .

OAZ3 951 100% .

OBFC1 1143 100% .

OBFC2A 639 100% .

OBFC2B 660 100%OBFC2B 660 100% .

OBP2A 603 92% .

OBP2B 537 92% .

OBSCN 25720 97% .

OBSL1 5927 92% 3‐M Syndrome

OBSL1 5927 92% 3‐M Syndrome, OBSL1‐Related

OC90 1533 100% .

OCA2 2609 100% Oculocutaneous Albinism Type 2

OCEL1 819 100% .

OCIAD1 788 100% .

OCIAD2 489 100% .

OCLM 1 0% .

OCLN 1601 95% .

OCM 346 100% .





OCM2 346 100% .

OCRL 2883 96% Dent Disease

OCRL 2883 96% Dent Disease 2

OCRL 2883 96% Lowe Syndrome

ODAM 880 100% .

ODC1 1426 100% .

ODF1 761 100% .

ODF2 2996 100% .

ODF2L 2155 100% .

ODF3 789 96% .

ODF3B 870 67% .

ODF3L1 841 100% .

ODF3L2 886 57% .

ODF4 786 100% .

ODZ1 8327 100% .

ODZ2 7907 100% .

ODZ3 8208 100% .

ODZ4 8430 95% .

OFD1 3131 100% Joubert SyndromeOFD1 3131 100% Joubert Syndrome

OFD1 3131 100% OFD1‐Related Joubert Syndrome

OFD1 3131 100% Oral‐Facial‐Digital Syndrome Type I

OFD1 3131 100% Simpson‐Golabi‐Behmel Syndrome, Type 2

OGDH 3333 100% .

OGDHL 3121 100% .

OGFOD1 1681 100% .

OGFOD2 1088 97% .

OGFR 2146 80% .

OGFRL1 1384 90% .

OGG1 1773 100% .

OGN 921 100% .

OGT 3382 100% .

OIP5 710 100% .





OIT3 1674 100% .

OLA1 1297 100% .

OLAH 1101 85% .

OLFM1 1438 100% .

OLFM2 1389 95% .

OLFM3 1401 100% .

OLFM4 1553 100% .

OLFML1 1221 100% .

OLFML2A 1991 94% .

OLFML2B 2288 100% .

OLFML3 1233 100% .

OLIG1 820 38% .

OLIG2 976 55% .

OLIG3 823 99% .

OLR1 846 100% .

OMA1 1607 100% .

OMD 1274 100% .

OMG 1327 100% .

OMP 1 0%OMP 1 0% .

ONECUT1 1406 99% .

ONECUT2 1523 90% .

ONECUT3 1493 33% .

OOEP 462 100% .

OPA1 3169 99% Optic Atrophy Type 1

OPA1 3169 99% Optic Atrophy Type 1 and Deafness

OPA3 953 100% 3‐Methylglutaconic Aciduria Type 3

OPA3 953 100% Optic Atrophy Type 3

OPALIN 467 100% .

OPCML 1131 100% .

OPHN1 2501 100% X‐Linked Mental Retardation with Cerebellar Hypoplasia and Distinctive Facial Appearance

OPLAH 3973 97% .

OPN1LW 1119 86% Blue‐Mono‐Cone‐Monochromatic Type Colorblindness





OPN1LW 1119 86% Red‐Green Color Vision Defects

OPN1MW 2238 36% Blue‐Mono‐Cone‐Monochromatic Type Colorblindness

OPN1MW 2238 36% Red‐Green Color Vision Defects

OPN1MW2 2238 36% .

OPN1SW 1067 100% .

OPN3 1225 96% .

OPN4 1514 99% .

OPN5 1099 99% .

OPRD1 1131 92% .

OPRK1 1155 100% .

OPRL1 1153 100% .

OPRM1 2201 86% .

OPTC 1065 100% .

OPTN 1786 100% Primary Open Angle Glaucoma (Adult Onset)

OR10A2 916 100% .

OR10A3 949 100% .

OR10A4 952 100% .

OR10A5 970 100% .

OR10A6 949 100%OR10A6 949 100% .

OR10A7 955 100% .

OR10AD1 958 100% .

OR10AG1 910 100% .

OR10C1 950 99% .

OR10G2 937 99% .

OR10G3 946 100% .

OR10G4 940 100% .

OR10G7 940 100% .

OR10G8 940 100% .

OR10G9 940 100% .

OR10H1 961 100% .

OR10H2 952 100% .

OR10H3 955 100% .





OR10H4 955 100% .

OR10H5 952 100% .

OR10J1 967 100% .

OR10J3 994 100% .

OR10J5 934 100% .

OR10K1 946 100% .

OR10K2 943 100% .

OR10P1 946 100% .

OR10Q1 964 100% .

OR10R2 1012 100% .

OR10S1 1000 100% .

OR10T2 949 100% .

OR10V1 934 100% .

OR10W1 922 100% .

OR10X1 985 100% .

OR10Z1 946 100% .

OR11A1 959 99% .

OR11G2 1042 100% .

OR11H1 985 85%OR11H1 985 85% .

OR11H12 985 100% .

OR11H2 985 100% .

OR11H4 979 100% .

OR11H6 997 100% .

OR11L1 973 100% .

OR12D2 933 99% .

OR12D3 960 99% .

OR13A1 991 100% .

OR13C2 961 100% .

OR13C3 1048 100% .

OR13C4 961 100% .

OR13C5 961 100% .

OR13C8 967 100% .





OR13C9 961 100% .

OR13D1 1045 100% .

OR13F1 964 100% .

OR13G1 928 100% .

OR13H1 931 100% .

OR13J1 943 100% .

OR14A16 934 100% .

OR14C36 943 100% .

OR14I1 940 100% .

OR14J1 976 99% .

OR1A1 934 100% .

OR1A2 934 100% .

OR1B1 961 100% .

OR1C1 949 100% .

OR1D2 943 100% .

OR1D5 997 100% .

OR1E1 949 100% .

OR1E2 976 100% .

OR1F1 943 100%OR1F1 943 100% .

OR1G1 1060 100% .

OR1I1 1072 100% .

OR1J1 973 100% .

OR1J2 946 100% .

OR1J4 947 100% .

OR1K1 955 100% .

OR1L1 1087 100% .

OR1L3 979 100% .

OR1L4 940 100% .

OR1L6 1048 100% .

OR1L8 934 100% .

OR1M1 955 100% .

OR1N1 943 100% .





OR1N2 997 100% .

OR1Q1 949 100% .

OR1S1 982 100% .

OR1S2 982 100% .

OR2A1 1874 62% .

OR2A12 937 100% .

OR2A14 937 100% .

OR2A2 961 100% .

OR2A25 937 100% .

OR2A4 937 81% .

OR2A42 1874 62% .

OR2A5 940 100% .

OR2A7 937 97% .

OR2AE1 994 100% .

OR2AG1 955 100% .

OR2AG2 955 100% .

OR2AK2 1012 100% .

OR2AT4 967 100% .

OR2B11 958 100%OR2B11 958 100% .

OR2B2 1078 100% .

OR2B3 953 99% .

OR2B6 946 100% .

OR2C1 943 100% .

OR2C3 967 100% .

OR2D2 931 100% .

OR2D3 997 100% .

OR2F1 958 100% .

OR2F2 958 100% .

OR2G2 958 100% .

OR2G3 934 100% .

OR2G6 955 100% .

OR2H1 962 99% .





OR2H2 949 99% .

OR2J2 950 99% .

OR2J3 948 99% .

OR2K2 1042 100% .

OR2L13 943 100% .

OR2L2 943 100% .

OR2L3 943 100% .

OR2L8 943 100% .

OR2M2 1048 100% .

OR2M3 943 100% .

OR2M4 940 100% .

OR2M5 943 100% .

OR2M7 943 100% .

OR2S2 964 100% .

OR2T1 1114 100% .

OR2T10 943 100% .

OR2T11 955 100% .

OR2T12 967 100% .

OR2T2 979 99%OR2T2 979 99% .

OR2T27 958 98% .

OR2T29 952 37% .

OR2T3 961 100% .

OR2T33 967 100% .

OR2T34 961 100% .

OR2T35 976 70% .

OR2T4 1051 100% .

OR2T5 952 41% .

OR2T6 931 100% .

OR2T8 943 97% .

OR2V2 952 100% .

OR2W1 974 99% .

OR2W3 949 100% .





OR2W5 1 0% .

OR2Y1 940 100% .

OR2Z1 949 100% .

OR3A1 970 100% .

OR3A2 970 100% .

OR3A3 970 100% .

OR4A15 1039 100% .

OR4A16 991 100% .

OR4A47 934 100% .

OR4A5 952 100% .

OR4B1 934 100% .

OR4C11 937 100% .

OR4C12 934 100% .

OR4C13 934 100% .

OR4C15 1117 100% .

OR4C16 937 100% .

OR4C3 994 100% .

OR4C45 949 100% .

OR4C46 934 100%OR4C46 934 100% .

OR4C6 934 100% .

OR4D1 937 100% .

OR4D10 1 0% .

OR4D11 940 100% .

OR4D2 928 100% .

OR4D5 961 100% .

OR4D6 949 100% .

OR4D9 949 100% .

OR4E2 946 100% .

OR4F15 943 100% .

OR4F16 2829 0% .

OR4F17 976 91% .

OR4F21 943 57% .





OR4F29 2829 0% .

OR4F3 2829 0% .

OR4F4 922 70% .

OR4F5 922 57% .

OR4F6 943 100% .

OR4K1 940 100% .

OR4K13 919 100% .

OR4K14 937 100% .

OR4K15 1051 100% .

OR4K17 1036 100% .

OR4K2 949 100% .

OR4K5 976 100% .

OR4L1 943 100% .

OR4M1 946 100% .

OR4M2 946 100% .

OR4N2 928 100% .

OR4N4 955 100% .

OR4N5 931 100% .

OR4P4 943 100%OR4P4 943 100% .

OR4Q3 946 100% .

OR4S1 934 100% .

OR4S2 940 100% .

OR4X1 922 100% .

OR4X2 916 100% .

OR51A2 946 79% .

OR51A4 946 100% .

OR51A7 943 100% .

OR51B2 943 100% .

OR51B4 937 100% .

OR51B5 943 100% .

OR51B6 943 100% .

OR51D1 979 100% .





OR51E1 961 100% .

OR51E2 967 100% .

OR51F1 964 100% .

OR51F2 1033 100% .

OR51G1 970 100% .

OR51G2 949 100% .

OR51I1 949 100% .

OR51I2 943 100% .

OR51L1 952 100% .

OR51M1 985 100% .

OR51Q1 958 100% .

OR51S1 976 100% .

OR51T1 1069 100% .

OR51V1 970 100% .

OR52A1 943 100% .

OR52A5 955 100% .

OR52B2 1 0% .

OR52B4 949 100% .

OR52B6 1012 100%OR52B6 1012 100% .

OR52D1 961 100% .

OR52E2 982 100% .

OR52E4 943 100% .

OR52E6 951 100% .

OR52E8 958 100% .

OR52H1 979 100% .

OR52I1 1036 100% .

OR52I2 1057 100% .

OR52J3 940 100% .

OR52K1 949 100% .

OR52K2 949 100% .

OR52L1 994 100% .

OR52M1 958 100% .





OR52N1 967 99% .

OR52N2 970 100% .

OR52N4 970 100% .

OR52N5 979 95% .

OR52R1 1189 100% .

OR52W1 967 100% .

OR56A1 961 100% .

OR56A3 952 100% .

OR56A4 1102 100% .

OR56A5 738 100% .

OR56B1 979 100% .

OR56B4 964 100% .

OR5A1 952 100% .

OR5A2 979 100% .

OR5AC2 934 100% .

OR5AK2 934 100% .

OR5AN1 940 100% .

OR5AP2 955 100% .

OR5AR1 937 100%OR5AR1 937 100% .

OR5AS1 979 100% .

OR5AU1 1093 100% .

OR5B12 949 100% .

OR5B17 949 100% .

OR5B2 934 100% .

OR5B21 934 100% .

OR5B3 949 100% .

OR5C1 967 100% .

OR5D13 949 100% .

OR5D14 949 100% .

OR5D16 991 100% .

OR5D18 952 100% .

OR5F1 949 100% .





OR5H1 946 100% .

OR5H14 937 100% .

OR5H15 946 100% .

OR5H2 949 100% .

OR5H6 982 100% .

OR5I1 949 100% .

OR5J2 943 100% .

OR5K1 931 100% .

OR5K2 955 100% .

OR5K3 970 100% .

OR5K4 970 100% .

OR5L1 940 100% .

OR5L2 940 100% .

OR5M1 1 0% .

OR5M10 1 0% .

OR5M11 1 0% .

OR5M3 928 100% .

OR5M8 940 100% .

OR5M9 937 100%OR5M9 937 100% .

OR5P2 973 100% .

OR5P3 940 100% .

OR5R1 979 100% .

OR5T1 985 100% .

OR5T2 1084 100% .

OR5T3 1027 100% .

OR5V1 974 100% .

OR5W2 937 100% .

OR6A2 988 100% .

OR6B1 940 100% .

OR6B2 943 100% .

OR6B3 1000 100% .

OR6C1 943 100% .





OR6C2 943 100% .

OR6C3 940 100% .

OR6C4 934 100% .

OR6C6 949 100% .

OR6C65 943 100% .

OR6C68 958 100% .

OR6C70 943 100% .

OR6C74 943 100% .

OR6C75 943 100% .

OR6C76 943 100% .

OR6F1 931 100% .

OR6K2 979 100% .

OR6K3 1000 100% .

OR6K6 1036 100% .

OR6M1 946 100% .

OR6N1 943 100% .

OR6N2 958 100% .

OR6P1 958 100% .

OR6Q1 958 100%OR6Q1 958 100% .

OR6S1 1000 100% .

OR6T1 976 100% .

OR6V1 946 100% .

OR6X1 943 100% .

OR6Y1 982 100% .

OR7A10 934 100% .

OR7A17 934 100% .

OR7A5 964 100% .

OR7C1 967 100% .

OR7C2 964 100% .

OR7D2 943 100% .

OR7D4 943 100% .

OR7E24 1024 100% .





OR7G1 920 100% .

OR7G2 1042 100% .

OR7G3 943 100% .

OR8A1 985 100% .

OR8B12 937 100% .

OR8B2 946 100% .

OR8B3 946 100% .

OR8B4 934 100% .

OR8B8 940 100% .

OR8D1 931 100% .

OR8D2 940 100% .

OR8D4 949 100% .

OR8G1 937 100% .

OR8G2 1 0% .

OR8G5 157 100% .

OR8H1 940 100% .

OR8H2 943 100% .

OR8H3 943 100% .

OR8I2 937 100%OR8I2 937 100% .

OR8J1 955 100% .

OR8J3 952 100% .

OR8K1 964 100% .

OR8K3 943 100% .

OR8K5 928 100% .

OR8S1 1088 100% .

OR8U1 934 100% .

OR8U8 935 100% .

OR9A2 937 100% .

OR9A4 949 100% .

OR9G1 922 100% .

OR9G4 988 100% .

OR9G9 922 100% .





OR9I1 949 100% .

OR9K2 1012 100% .

OR9Q1 937 100% .

OR9Q2 949 100% .

ORAI1 920 99% .

ORAI2 773 100% .

ORAI3 896 96% .

ORAOV1 434 100% .

ORC1 2650 100% Meier‐Gorlin Syndrome 1

ORC2 1798 100% .

ORC3 2219 100% .


ORC5 1462 100% .


ORM1 630 98% .

ORM2 1041 88% .

ORMDL1 478 100% .

ORMDL2 474 100% .

ORMDL3 474 100%ORMDL3 474 100% .

OS9 2067 100% .

OSBP 2480 90% .

OSBP2 2954 98% .

OSBPL10 2403 93% .

OSBPL11 2296 100% .

OSBPL1A 2961 100% .

OSBPL2 1565 100% .

OSBPL3 2935 100% .

OSBPL5 2724 95% .

OSBPL6 3126 100% .

OSBPL7 2704 96% .

OSBPL8 2763 100% .

OSBPL9 2503 100% .





OSCAR 1022 65% .

OSCP1 1340 100% .

OSGEP 1052 100% .

OSGEPL1 1345 100% .

OSGIN1 1486 100% .

OSGIN2 1674 97% .

OSM 771 100% .

OSMR 3047 100% .

OSR1 809 100% .

OSR2 1065 100% .

OST4 1 0% .

OSTalpha 1286 90% .

OSTBETA 399 75% .

OSTC 477 100% .

OSTF1 685 100% .

OSTM1 1029 93% OSTM1‐Related Autosomal Recessive Osteopetrosis

OSTN 414 100% .

OTC 1105 100% Ornithine Transcarbamylase Deficiency

OTOA 3620 79% DFNB22 Nonsyndromic Hearing Loss and DeafnessOTOA 3620 79% DFNB22 Nonsyndromic Hearing Loss and Deafness

OTOA 3620 79% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

OTOF 6561 99% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

OTOF 6561 99% OTOF‐Related Deafness

OTOGL 4872 100% .

OTOL1 1450 100% .

OTOP1 1863 95% .

OTOP2 1713 100% .

OTOP3 1819 94% .

OTOR 403 100% .

OTOS 282 100% .

OTP 990 93% .

OTUB1 1144 86% .

OTUB2 729 99% .





OTUD1 1450 45% .

OTUD3 1229 83% .

OTUD4 3270 100% .

OTUD5 1752 75% .

OTUD6A 871 100% .

OTUD6B 1000 100% .

OTUD7A 2846 74% .

OTUD7B 2576 100% .

OTX1 1192 100% .

OTX2 906 100% Anophthalmia/Microphthalmia

OTX2 906 100% Syndromic Microphthalmia 5

OVCA2 692 89% .

OVCH1 3517 100% .

OVCH2 1768 100% .

OVGP1 2328 100% .

OVOL1 820 99% .

OVOL2 844 76% .

OXA1L 1533 100% .

OXCT1 1631 100% 3 Oxoacid CoA Transferase DeficiencyOXCT1 1631 100% 3‐Oxoacid CoA Transferase Deficiency

OXCT2 1558 68% .

OXER1 1276 99% .

OXGR1 1018 100% .

OXNAD1 967 100% .

OXR1 2960 95% .

OXSM 1388 100% .

OXSR1 1688 100% .

OXT 390 93% .

OXTR 1178 92% .

P2RX1 1248 100% .

P2RX2 1539 99% .

P2RX3 1242 99% .

P2RX4 1215 99% .





P2RX5 1433 100% .

P2RX6 1374 100% .

P2RX7 1897 98% .

P2RY1 1126 100% .

P2RY10 1024 100% .

P2RY11 1133 100% .

P2RY12 1033 100% .

P2RY13 1073 100% .

P2RY14 1021 100% .

P2RY2 1138 100% .

P2RY4 1102 100% .

P2RY6 991 100% .

P2RY8 1085 100% .

P4HA1 1740 100% .

P4HA2 1822 100% .

P4HA3 1874 94% .

P4HB 1624 91% .

P4HTM 1806 89% .

PA2G4 1237 100%PA2G4 1237 100% .

PAAF1 1227 96% .

PABPC1 1967 100% .

PABPC1L 1901 99% .

PABPC1L2A 607 21% .

PABPC1L2B 607 2% .

PABPC3 1900 100% .

PABPC4 2043 100% .

PABPC4L 1117 48% .

PABPC5 1153 100% .

PABPN1 959 77% Oculopharyngeal Muscular Dystrophy

PABPN1L 1029 90% .

PACRG 915 87% .

PACRGL 758 100% .





PACS1 2988 96% .

PACS2 2815 89% .

PACSIN1 1371 97% .

PACSIN2 1513 100% .

PACSIN3 1311 100% .

PADI1 2056 100% .

PADI2 2066 96% .

PADI3 2059 100% .

PADI4 2056 100% .

PADI6 17 0% .

PAEP 639 80% .

PAF1 1728 98% .

PAFAH1B1 1273 100% LIS1‐Associated Lissencephaly/Subcortical Band Heterotopia

PAFAH1B2 917 77% .

PAFAH1B3 716 95% .

PAFAH2 1234 100% .

PAG1 1323 100% .

PAGE1 461 100% .

PAGE2 352 94%PAGE2 352 94% .

PAGE2B 352 94% .

PAGE4 325 100% .

PAGE5 413 95% .

PAH 1411 100% Phenylalanine Hydroxylase Deficiency

PAICS 1339 98% .

PAIP1 1484 82% .

PAIP2 396 100% .

PAIP2B 384 100% .

PAK1 1747 100% .

PAK1IP1 1219 100% .

PAK2 1632 100% .

PAK3 1807 100% X‐Linked Mental Retardation 30

PAK4 1808 88% .





PAK6 2078 100% .

PAK7 2192 100% .

PALB2 3613 100% Fanconi Anemia

PALB2 3613 100% PALB2‐Related Cancer Susceptibility

PALB2 3613 100% PALB2‐Related Fanconi Anemia

PALB2 3613 100% Pancreatic Cancer Susceptibility 3

PALLD 4224 87% Pancreatic Cancer Susceptibility 1

PALM 1200 80% .

PALM2 1275 99% .

PALM2‐AKAP2 3358 100% .

PALM3 2046 63% .

PALMD 1688 100% .

PAM 3029 100% .

PAM16 398 100% .

PAMR1 2262 97% .

PAN2 3709 100% .

PAN3 2740 86% .

PANK1 1857 95% .

PANK2 1741 95% Pantothenate Kinase Associated NeurodegenerationPANK2 1741 95% Pantothenate Kinase‐Associated Neurodegeneration

PANK3 1141 100% .

PANK4 2671 96% .

PANX1 1301 100% .

PANX2 2046 76% .

PANX3 1195 100% .

PAOX 1647 89% .

PAPD4 1511 100% .

PAPD5 2149 90% .

PAPD7 1677 100% .

PAPL 1365 100% .

PAPLN 3913 96% .

PAPOLA 2326 100% .

PAPOLB 1915 100% .





PAPOLG 2299 100% .

PAPPA 4972 92% .

PAPPA2 5517 100% .

PAPSS1 1923 100% .

PAPSS2 1914 100% .

PAQR3 960 100% .

PAQR4 834 99% .

PAQR5 1021 100% .

PAQR6 1533 98% .

PAQR7 1045 100% .

PAQR8 1084 100% .

PAQR9 1138 92% .

PARD3 4206 98% .

PARD3B 3762 93% .

PARD6A 1053 100% .

PARD6B 1131 94% .

PARD6G 1143 79% .

PARG 1543 98% .

PARK2 1451 100% Parkin Type of Juvenile Parkinson DiseasePARK2 1451 100% Parkin Type of Juvenile Parkinson Disease

PARK2 1451 100% Parkinson Disease

PARK7 594 100% PARK7‐Related Parkinson Disease

PARK7 594 100% Parkinson Disease

PARL 1191 100% .

PARM1 949 100% .

PARN 2016 97% .

PARP1 3319 100% .

PARP10 3122 97% .

PARP11 1189 93% .

PARP12 2154 86% .

PARP14 5605 100% .

PARP15 2154 95% .

PARP16 996 98% .





PARP2 1846 100% .

PARP3 1672 99% .

PARP4 5307 100% .

PARP6 1981 100% .

PARP8 2676 100% .

PARP9 2658 100% .

PARPBP 1780 91% .

PARS2 1432 100% .

PARVA 1171 100% .

PARVB 1379 92% .

PARVG 1337 80% .

PASD1 2382 100% .

PASK 4139 100% .

PATE1 401 100% .

PATE2 358 100% .

PATE3 310 0% .

PATE4 309 0% .

PATL1 2389 85% .

PATL2 1692 8%PATL2 1692 8% .

PATZ1 2367 100% .

PAWR 1047 62% .

PAX1 1849 83% .

PAX2 1453 100% Anophthalmia/Microphthalmia

PAX2 1453 100% Renal Coloboma Syndrome

PAX3 1687 99% Craniofacial‐Deafness‐Hand Syndrome

PAX3 1687 99% Waardenburg Syndrome Type I

PAX3 1687 99% Waardenburg Syndrome Type III

PAX4 1079 100% Maturity‐Onset Diabetes of the Young Type 9

PAX5 1231 100% .

PAX6 1355 100% Aniridia

PAX6 1355 100% Aniridia, Cerebellar Ataxia, And Mental Retardation

PAX6 1355 100% Aniridia‐Wilms Tumor Contiguous Gene Deletion Syndrome





PAX6 1355 100% Foveal Hypoplasia and Presenile Cataract Syndrome

PAX6 1355 100% Foveal Hypoplasia and Presenile Cataract Syndrome (280725)

PAX6 1355 100% Hereditary Keratitis

PAX6 1355 100% Isolated Aniridia

PAX6 1355 100% PAX6‐Related Anophthalmia

PAX6 1355 100% Peters Anomaly

PAX6 1355 100% Peters Anomaly with Cataract

PAX6 1355 100% Wilms Tumor‐Aniridia‐Genital Anomalies‐Retardation Syndrome

PAX7 1715 100% .

PAX8 1422 99% Congenital Hypothyroidism

PAX8 1422 99% Congenital Hypothyroidism, Nongoitrous 2

PAX9 1042 98% Tooth Agenesis, Selective, 3

PAXIP1 3418 94% .

PBK 997 100% .

PBLD 996 100% .

PBOV1 1 0% .

PBRM1 5021 100% .

PBX1 1330 86% .

PBX2 1383 96%PBX2 1383 96% .

PBX3 1341 100% .

PBX4 1157 85% .

PBXIP1 2407 100% .

PC 3617 99% Pyruvate Carboxylase Deficiency

PCBD1 331 98% BH4‐Deficient Hyperphenylalaninemia D

PCBD2 409 78% .

PCBP1 1075 100% .

PCBP2 1157 100% .

PCBP3 1269 100% .

PCBP4 1472 96% .

PCCA 2283 93% PCCA‐Related Propionic Acidemia

PCCA 2283 93% Propionic Acidemia

PCCB 1744 93% PCCB‐Related Propionic Acidemia





PCCB 1744 93% Propionic Acidemia

PCDH1 3863 99% .

PCDH10 3143 100% .

PCDH11X 4202 99% .

PCDH11Y 4101 100% .

PCDH12 3571 100% .

PCDH15 7672 100% DFNB23 Nonsyndromic Hearing Loss and Deafness

PCDH15 7672 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

PCDH15 7672 100% Usher Syndrome Type 1

PCDH15 7672 100% Usher Syndrome Type 1F

PCDH17 3504 100% .

PCDH18 3424 100% .

PCDH19 3471 99% PCDH19‐Related X‐Linked Female‐Limited Epilepsy with Mental Retardation

PCDH20 2864 100% .

PCDH7 3796 94% .

PCDH8 3225 88% .

PCDH9 3793 100% .

PCDHA1 2899 100% .

PCDHA10 3010 98%PCDHA10 3010 98% .

PCDHA11 2908 100% .

PCDHA12 2854 100% .

PCDHA13 2899 100% .

PCDHA2 2950 100% .

PCDHA3 2950 100% .

PCDHA4 2872 100% .

PCDHA5 2926 100% .

PCDHA6 2887 100% .

PCDHA7 2845 99% .

PCDHA8 2920 100% .

PCDHA9 3004 99% .

PCDHAC1 2932 100% .

PCDHAC2 3130 100% .





PCDHB1 2461 100% .

PCDHB10 2407 100% .

PCDHB11 2398 100% .

PCDHB12 2392 100% .

PCDHB13 2401 100% .

PCDHB14 2401 100% .

PCDHB15 2368 100% .

PCDHB16 2335 100% .

PCDHB2 2401 100% .

PCDHB3 2395 100% .

PCDHB4 2392 100% .

PCDHB5 2392 100% .

PCDHB6 2389 100% .

PCDHB7 2386 100% .

PCDHB8 2410 100% .

PCDHB9 1 0% .

PCDHGA1 2863 100% .

PCDHGA10 2827 100% .

PCDHGA11 2824 100%PCDHGA11 2824 100% .

PCDHGA12 2815 100% .

PCDHGA2 2863 100% .

PCDHGA3 2815 100% .

PCDHGA4 389 99% .

PCDHGA5 389 99% .

PCDHGA6 389 99% .

PCDHGA7 389 99% .

PCDHGA8 2815 100% .

PCDHGA9 389 99% .

PCDHGB1 389 99% .

PCDHGB2 389 99% .

PCDHGB3 389 99% .

PCDHGB4 389 99% .





PCDHGB5 389 99% .

PCDHGB6 389 99% .

PCDHGB7 2806 100% .

PCDHGC3 2821 100% .

PCDHGC4 2833 100% .

PCDHGC5 2851 100% .

PCDP1 1859 100% .

PCF11 4732 100% .

PCGF1 816 99% .

PCGF2 1071 93% .

PCGF3 1174 93% .

PCGF5 807 100% .

PCGF6 1093 98% .

PCID2 1418 100% .

PCIF1 2175 99% .

PCK1 1905 100% Phosphoenolpyruvate Carboxykinase Deficiency

PCK2 2055 99% Phosphoenolpyruvate Carboxykinase Deficiency

PCLO 15740 100% .

PCM1 6226 100%PCM1 6226 100% .

PCMT1 903 94% .

PCMTD1 1094 100% .

PCMTD2 1106 100% .

PCNA 810 100% .

PCNP 557 88% .

PCNT 10219 99% Microcephalic Osteodysplastic Primordial Dwarfism, Type II

PCNT 10219 99% Seckel Syndrome

PCNX 7170 100% .

PCNXL2 6720 100% .

PCNXL3 6285 96% .

PCOLCE 1386 94% .

PCOLCE2 1284 97% .

PCP2 427 91% .





PCP4 201 100% .

PCP4L1 219 94% .

PCSK1 2361 98% Monogenic Non‐Syndromic Obesity, Autosomal Recessive

PCSK1 2361 98% Proprotein Convertase‐1 Deficiency

PCSK1N 795 13% .

PCSK2 1965 100% .

PCSK4 2399 83% .

PCSK5 6024 100% .

PCSK6 3384 89% .

PCSK7 2418 97% .

PCSK9 2127 91% Familial Hypercholesterolemia, Autosomal Dominant, 3

PCTP 669 79% .

PCYOX1 1542 100% .

PCYOX1L 1525 93% .

PCYT1A 1232 100% .

PCYT1B 1246 100% .

PCYT2 1223 89% .

PDAP1 570 97% .

PDC 777 100%PDC 777 100% .

PDCD1 887 99% .

PDCD10 671 100% Familial Cerebral Cavernous Malformation

PDCD10 671 100% Familial Cerebral Cavernous Malformation 3

PDCD11 5756 100% .

PDCD1LG2 846 100% .

PDCD2 1089 86% .

PDCD2L 1105 92% .

PDCD4 1468 100% .

PDCD5 534 93% .

PDCD6 749 98% .

PDCD6IP 2694 96% .

PDCD7 1533 71% .

PDCL 918 100% .





PDCL2 750 100% .

PDCL3 776 100% .

PDDC1 736 90% .

PDE10A 2469 99% .

PDE11A 3055 100% .

PDE12 1874 100% .

PDE1A 1837 100% .

PDE1B 1724 97% .

PDE1C 2540 100% .

PDE2A 3279 92% .

PDE3A 3491 93% .

PDE3B 3457 100% .

PDE4A 3577 93% .

PDE4B 2633 100% .

PDE4C 2349 88% .

PDE4D 3305 85% .

PDE4DIP 8995 99% .

PDE5A 2754 100% .

PDE6A 2671 100% PDE6A Related Retinitis PigmentosaPDE6A 2671 100% PDE6A‐Related Retinitis Pigmentosa

PDE6A 2671 100% Retinitis Pigmentosa, Autosomal Recessive

PDE6B 2760 99% Congenital Stationary Night Blindness, Autosomal Dominant 2

PDE6B 2760 99% PDE6B‐Related Retinitis Pigmentosa

PDE6B 2760 99% Retinitis Pigmentosa, Autosomal Recessive

PDE6C 2665 100% Achromatopsia

PDE6C 2665 100% Achromatopsia 5

PDE6C 2665 100% Cone‐Rod Dystrophy 4

PDE6D 473 100% .

PDE6G 335 100% .

PDE6H 264 100% .

PDE7A 1597 100% .

PDE7B 1613 99% .

PDE8A 2578 94% .





PDE8B 2760 99% .

PDE9A 1942 98% .

PDF 740 36% .

PDGFA 1048 85% .

PDGFB 772 100% .

PDGFC 1062 100% .

PDGFD 1141 100% .

PDGFRA 3399 100% Gastrointestinal Stromal Tumor

PDGFRB 3409 100% .

PDGFRL 1152 100% .

PDHA1 1389 100% Pyruvate Dehydrogenase E1‐Alpha Deficiency

PDHA1 1389 100% X‐Linked Leigh Syndrome

PDHA2 1171 100% .

PDHB 1241 100% Pyruvate Dehydrogenase E1‐Beta Deficiency

PDHX 1669 95% E3‐Binding Protein (Component X) Deficiency

PDIA2 1711 100% .

PDIA3 1570 100% .

PDIA4 1978 95% .

PDIA5 1629 97%PDIA5 1629 97% .

PDIA6 1375 99% .

PDIK1L 1034 100% .

PDILT 1799 100% .

PDK1 1355 95% .

PDK2 1271 99% .

PDK3 1300 97% .

PDK4 1280 100% .

PDLIM1 1018 100% .

PDLIM2 1536 80% .

PDLIM3 1319 100% .

PDLIM4 1021 91% .

PDLIM5 2780 74% .

PDLIM7 1881 75% .





PDP1 1775 100% .

PDP2 1594 100% .

PDPK1 1992 46% .

PDPN 745 100% .

PDPR 2708 100% .

PDRG1 422 97% .

PDS5A 4183 98% .

PDS5B 4487 100% .

PDSS1 1300 87% Coenzyme Q10 Deficiency

PDSS1 1300 87% PDSS1‐Related Coenzyme Q10 Deficiency

PDSS2 1232 100% Coenzyme Q10 Deficiency

PDSS2 1232 100% PDSS2‐Related Coenzyme Q10 Deficiency

PDX1 860 73% Maturity‐Onset Diabetes of the Young Type 4

PDX1 860 73% PDX1‐Related Permanent Neonatal Diabetes Mellitus

PDX1 860 73% Permanent Neonatal Diabetes Mellitus

PDXDC1 2525 99% .

PDXK 983 91% .

PDXP 899 64% .

PDYN 773 100%PDYN 773 100% .

PDZD11 447 100% .

PDZD2 8625 100% .

PDZD3 1972 95% .

PDZD4 2360 94% .

PDZD7 3191 76% .

PDZD8 3485 99% .

PDZD9 627 94% .

PDZK1 1592 96% .

PDZK1IP1 361 99% .

PDZRN3 3241 84% .

PDZRN4 3224 96% .

PEA15 407 100% .

PEAK1 5257 100% .





PEAR1 3206 99% .

PEBP1 580 76% .

PEBP4 708 100% .

PECAM1 2 0% .

PECR 944 100% .

PEF1 934 100% .

PEG10 983 100% .

PEG3 4801 100% .

PELI1 1281 100% .

PELI2 1287 98% .

PELI3 1438 100% .

PELO 1166 100% .

PELP1 4041 99% .

PEMT 739 96% .

PENK 812 100% .

PEPD 1542 85% Prolidase Deficiency

PER1 4160 96% .

PER2 3856 99% .

PER3 3721 100%PER3 3721 100% .

PERP 594 100% .

PES1 1843 100% .

PET112 1793 100% .

PET117 254 0% .

PEX1 4002 99% Peroxisome Biogenesis Disorders (PBD)

PEX1 4002 99% Zellweger Syndrome Spectrum



PEX11A 756 92% .

PEX11B 797 96% .

PEX11G 746 68% .























PEX5L 1941 100% .


PEX6 3032 90% Zellweger Syndrome SpectrumPEX6 3032 90% Zellweger Syndrome Spectrum

PEX7 1012 87% PEX7‐Related Refsum Disease

PEX7 1012 87% Refsum Disease

PEX7 1012 87% Rhizomelic Chondrodysplasia Punctata Type 1

PF4 318 71% .

PF4V1 327 100% .

PFAS 4125 100% .

PFDN1 385 91% .

PFDN2 481 100% .

PFDN4 421 94% .

PFDN5 489 100% .

PFDN6 422 96% .

PFKFB1 1472 99% .

PFKFB2 1644 100% .





PFKFB3 1643 99% .

PFKFB4 1466 100% .

PFKL 2431 96% .

PFKM 2727 100% Glycogen Storage Disease Type VII

PFKP 2539 95% .

PFN1 435 100% .

PFN2 545 75% .

PFN3 418 95% .

PFN4 406 100% .

PGA3 1203 36% .

PGA4 1203 2% .

PGA5 1203 45% .

PGAM1 781 100% .

PGAM2 774 100% Glycogen Storage Disease Type X

PGAM4 769 100% .

PGAM5 947 63% .

PGAP1 2877 100% .

PGAP2 1240 96% .

PGAP3 995 84%PGAP3 995 84% .

PGBD1 2454 100% .

PGBD2 1787 100% .

PGBD3 1793 100% .

PGBD4 1762 100% .

PGBD5 1396 100% .

PGC 1512 80% .

PGCP 1678 100% .

PGD 1504 100% .

PGF 541 85% .

PGGT1B 1170 100% .

PGK1 1298 100% Phosphoglycerate Kinase Deficiency

PGK2 1258 100% .

PGLS 797 57% .





PGLYRP1 603 100% .

PGLYRP2 2015 89% .

PGLYRP3 1054 100% .

PGLYRP4 1154 100% .

PGM1 2037 100% .

PGM2 1895 96% .

PGM2L1 1925 100% .

PGM3 1849 91% .

PGM5 1748 94% .

PGP 974 44% .

PGPEP1 650 98% .

PGPEP1L 607 96% .

PGR 2834 96% .

PGRMC1 600 99% .

PGRMC2 688 81% .

PGS1 1717 92% .

PHACTR1 2321 99% .

PHACTR2 2023 98% .

PHACTR3 1845 87%PHACTR3 1845 87% .

PHACTR4 2214 100% .

PHAX 1205 100% .

PHB 962 100% .

PHB2 936 100% .

PHC1 3121 93% .

PHC2 2636 97% .

PHC3 3219 100% .

PHEX 2338 100% Hypophosphatemic Rickets, X‐Linked Dominant

PHF1 1780 99% .

PHF10 1566 94% .

PHF11 1036 91% .

PHF12 3372 100% .

PHF13 919 100% .





PHF14 2735 100% .

PHF15 2416 100% .

PHF16 2512 100% .

PHF17 2597 100% .

PHF19 1958 96% .

PHF2 3382 95% .

PHF20 3107 100% .

PHF20L1 3324 100% .

PHF21A 2137 100% .

PHF21B 1670 90% .

PHF23 1232 99% .

PHF3 6202 100% .

PHF5A 349 100% .

PHF6 1243 100% Borjeson‐Forssman‐Lehmann Syndrome

PHF7 1189 100% .

PHF8 3441 99% .

PHGDH 1686 100% Phosphoglycerate Dehydrogenase Deficiency

PHGR1 249 0% .

PHIP 5626 99%PHIP 5626 99% .

PHKA1 3800 100% Glycogen Storage Disease TypeIX

PHKA1 3800 100% Muscle Glycogenosis, X‐Linked

PHKA1 3800 100% PHKA1‐Related Glycogen Storage Disease Type IX

PHKA2 3840 99% Glycogen Storage Disease TypeIX

PHKA2 3840 99% PHKA2‐Related Glycogen Storage Disease Type IX

PHKB 3619 100% Glycogen Storage Disease TypeIX

PHKB 3619 100% PHKB‐Related Glycogen Storage Disease Type IX

PHKG1 1200 100% .

PHKG2 1323 93% Glycogen Storage Disease TypeIX

PHKG2 1323 93% PHKG2‐Related Glycogen Storage Disease Type IX

PHLDA1 1210 90% .

PHLDA2 463 98% .

PHLDA3 388 100% .





PHLDB1 4277 100% .

PHLDB2 4215 100% .

PHLDB3 1998 98% .

PHLPP1 5251 83% .

PHLPP2 4044 100% .

PHOSPHO1 939 75% .

PHOSPHO2 730 100% .

PHOSPHO2‐KLHL23 1689 100% .

PHOX2A 867 38% Congenital Fibrosis of the Extraocular Muscles

PHOX2A 867 38% PHOX2A‐Related Congenital Fibrosis of the Extraocular Muscles

PHOX2B 957 100% Congenital Central Hypoventilation Syndrome

PHOX2B 957 100% Neuroblastoma, Susceptibility

PHOX2B 957 100% PHOX2B‐Related Neuroblastoma, Susceptibility

PHPT1 637 100% .

PHRF1 5018 100% .

PHTF1 2442 100% .

PHTF2 2409 100% .

PHYH 1059 93% PHYH‐Related Refsum Disease

PHYH 1059 93% Refsum DiseasePHYH 1059 93% Refsum Disease

PHYHD1 1002 95% .

PHYHIP 1009 97% .

PHYHIPL 1183 100% .

PI15 797 100% .

PI16 1416 97% .

PI3 362 100% .

PI4K2A 1476 95% .

PI4K2B 1486 83% .

PI4KA 6534 97% .

PI4KB 2535 100% .

PIAS1 2012 100% .

PIAS2 1997 99% .

PIAS3 2080 99% .





PIAS4 1577 98% .

PIBF1 2342 100% .

PICALM 2067 100% .

PICK1 1296 100% .

PID1 793 80% .

PIDD 2793 98% .

PIEZO1 6444 79% .

PIEZO2 4876 95% .

PIF1 2056 85% .

PIGA 1476 100% .

PIGB 1716 100% .

PIGC 898 100% .

PIGF 759 100% .

PIGG 3100 100% .

PIGH 583 63% .

PIGK 1245 100% .

PIGL 795 100% .

PIGM 1276 100% .

PIGN 2908 100%PIGN 2908 100% .

PIGO 3310 100% .

PIGP 493 99% .

PIGQ 2394 95% .

PIGR 2335 98% .

PIGS 1726 100% .

PIGT 1846 97% .

PIGU 1356 99% .

PIGV 1494 100% .

PIGW 1519 100% .

PIGX 904 87% .

PIGY 354 55% .

PIGZ 1748 99% .

PIH1D1 1172 93% .





PIH1D2 1026 100% .

PIK3AP1 2486 99% .

PIK3C2A 5189 100% .

PIK3C2B 5033 98% .

PIK3C2G 4466 100% .

PIK3C3 2768 100% .

PIK3CA 3289 100% .

PIK3CB 3302 100% .

PIK3CD 3404 93% .

PIK3CG 3349 100% .

PIK3IP1 1002 84% .

PIK3R1 2389 100% .

PIK3R2 2247 88% .

PIK3R3 1426 100% .

PIK3R4 4153 100% .

PIK3R5 2715 100% .

PIK3R6 19 0% .

PIKFYVE 6472 100% Corneal Fleck Dystrophy

PILRA 967 100%PILRA 967 100% .

PILRB 783 100% .

PIM1 1239 95% .

PIM2 960 96% .

PIM3 1005 82% .

PIN1 564 86% .

PIN4 702 84% .

PINK1 1778 81% Parkinson Disease

PINK1 1778 81% PINK1‐Related Parkinson Disease

PINX1 1015 100% .

PION 2743 96% .

PIP 457 100% .

PIP4K2A 1294 100% .

PIP4K2B 1291 100% .





PIP4K2C 1306 100% .

PIP5K1A 1835 100% .

PIP5K1B 1675 100% .

PIP5K1C 2079 95% .

PIP5KL1 1225 72% .

PIPOX 1205 100% .

PIR 909 100% .

PIRT 418 100% .

PISD 1156 98% .

PITHD1 660 70% .

PITPNA 846 99% .

PITPNB 868 79% .

PITPNC1 1160 100% .

PITPNM1 3827 96% .

PITPNM2 4146 93% .

PITPNM3 3005 99% Cone‐Rod Dystrophy 5

PITRM1 3405 99% .

PITX1 957 98% .

PITX2 1179 91% Anophthalmia/MicrophthalmiaPITX2 1179 91% Anophthalmia/Microphthalmia

PITX2 1179 91% Anterior Segment Mesenchymal Dysgenesis

PITX2 1179 91% Axenfeld‐Rieger Syndrome

PITX2 1179 91% Cataracts, Autosomal Dominant

PITX2 1179 91% Iris Hypoplasia

PITX2 1179 91% Peters Anomaly

PITX2 1179 91% Peters Anomaly with Cataract

PITX2 1179 91% Ring Dermoid of Cornea

PITX3 921 92% Anophthalmia/Microphthalmia

PITX3 921 92% Anterior Segment Mesenchymal Dysgenesis

PITX3 921 92% Cataracts, Autosomal Dominant

PITX3 921 92% Peters Anomaly with Cataract

PIWIL1 2666 100% .

PIWIL2 3010 100% .





PIWIL3 2729 100% .

PIWIL4 2639 100% .

PJA1 1936 100% .

PJA2 2163 100% .

PKD1 13178 86% Polycystic Kidney Disease 1, Autosomal Dominant

PKD1 13178 86% Polycystic Kidney Disease, Autosomal Dominant

PKD1L1 8814 100% .

PKD1L2 5316 100% .

PKD1L3 5315 100% .

PKD2 2967 80% Polycystic Kidney Disease 2, Autosomal Dominant

PKD2 2967 80% Polycystic Kidney Disease, Autosomal Dominant

PKD2L1 2482 100% .

PKD2L2 1898 100% .

PKDCC 1510 71% .

PKDREJ 6766 93% .

PKHD1 12528 100% Polycystic Kidney Disease, Autosomal Recessive

PKHD1L1 13047 100% .

PKIA 239 100% .

PKIB 272 100%PKIB 272 100% .

PKIG 239 100% .

PKLR 1881 100% Pyruvate Kinase Deficiency

PKM2 2038 89% .

PKMYT1 1570 97% .

PKN1 2960 93% .

PKN2 3182 99% .

PKN3 2758 95% .

PKNOX1 1432 100% .

PKNOX2 1459 100% .

PKP1 2300 100% Ectodermal Dysplasia/Skin Fragility Syndrome

PKP1 2300 100% PKP1‐Related Ectodermal Dysplasia/Skin Fragility Syndrome

PKP2 2702 99% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 9

PKP2 2702 99% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant





PKP3 2446 77% .

PKP4 3671 100% .

PLA1A 1415 100% .

PLA2G10 514 29% .

PLA2G12A 586 98% .

PLA2G12B 604 100% .

PLA2G15 1263 100% .

PLA2G16 505 100% .

PLA2G1B 463 100% .

PLA2G2A 451 100% .

PLA2G2C 465 100% .

PLA2G2D 502 100% .

PLA2G2E 445 92% .

PLA2G2F 656 100% .

PLA2G3 1558 99% .

PLA2G4A 2318 100% .

PLA2G4B 2426 100% .

PLA2G4C 1723 100% .

PLA2G4D 2666 90%PLA2G4D 2666 90% .

PLA2G4E 2687 100% .

PLA2G4F 2636 99% .

PLA2G5 433 100% .

PLA2G6 2485 89% Infantile Neuroaxonal Dystrophy

PLA2G7 1370 100% .

PLA2R1 4520 99% .

PLAA 2444 98% .

PLAC1 643 100% .

PLAC1L 493 100% .

PLAC4 1 0% .

PLAC8 360 100% .

PLAC8L1 550 100% .

PLAC9 401 83% .





PLAG1 1511 100% .

PLAGL1 1400 100% Diabetes Mellitus, 6q24‐Related Transient Neonatal

PLAGL2 1499 100% .

PLAT 1745 100% .

PLAU 1734 100% .

PLAUR 1132 92% .

PLB1 4682 100% .

PLBD1 1706 94% .

PLBD2 1818 82% .

PLCB1 3885 100% .

PLCB2 3686 98% .

PLCB3 3898 90% .

PLCB4 3769 100% .

PLCD1 2432 98% .

PLCD3 2429 89% .

PLCD4 2617 100% .

PLCE1 7319 100% Nephrotic Syndrome Type 3

PLCG1 4004 97% .

PLCG2 3926 100%PLCG2 3926 100% .

PLCH1 5196 100% .

PLCH2 5018 91% .

PLCL1 3312 93% .

PLCL2 3079 100% .

PLCXD1 1002 99% .

PLCXD2 1053 100% .

PLCXD3 978 100% .

PLCZ1 2002 100% .

PLD1 3329 100% .

PLD2 2898 100% .

PLD3 1517 97% .

PLD4 1561 90% .

PLD5 1373 100% .





PLD6 767 63% .

PLDN 539 87% .

PLEC 14884 95% Epidermolysis Bullosa Simplex with Muscular Dystrophy

PLEC 14884 95% Epidermolysis Bullosa Simplex, Ogna Type

PLEC 14884 95% Epidermolysis Bullosa with Pyloric Atresia

PLEC 14884 95% PLEC‐Related Epidermolysis Bullosa with Pyloric Atresia

PLEK 1143 100% .

PLEK2 1098 99% .

PLEKHA1 1304 100% .

PLEKHA2 1323 100% .

PLEKHA3 935 100% .

PLEKHA4 2416 99% .

PLEKHA5 3634 99% .

PLEKHA6 3287 98% .

PLEKHA7 3461 97% .

PLEKHA8 1726 96% .

PLEKHB1 790 97% .

PLEKHB2 721 100% .

PLEKHD1 1573 57%PLEKHD1 1573 57% .

PLEKHF1 860 94% .

PLEKHF2 754 100% .

PLEKHG1 4218 100% .

PLEKHG2 4236 99% .

PLEKHG3 3548 100% .

PLEKHG4 3743 100% .

PLEKHG4B 3993 98% .

PLEKHG5 3348 96% Distal Spinal Muscular Atrophy 4

PLEKHG6 2479 95% .

PLEKHG7 1184 100% .

PLEKHH1 4278 100% .

PLEKHH2 4704 100% .

PLEKHH3 2657 81% .





PLEKHJ1 474 74% .

PLEKHM1 3267 100% PLEKHM1‐Related Autosomal Recessive Osteopetrosis

PLEKHM2 3404 92% .

PLEKHM3 2340 100% .

PLEKHN1 2052 92% .

PLEKHO1 1360 96% .

PLEKHO2 1497 98% .

PLG 2564 100% .

PLGLB1 653 42% .

PLGLB2 653 42% .

PLIN1 1601 75% .

PLIN2 1366 100% .

PLIN3 1333 100% .

PLIN4 4098 100% .

PLIN5 1498 82% .

PLK1 2089 96% .

PLK1S1 14 0% .

PLK2 2117 100% .

PLK3 2001 88%PLK3 2001 88% .

PLK4 2977 100% .

PLK5 9 0% .

PLLP 565 94% .

PLN 163 100% Dilated Cardiomyopathy

PLN 163 100% PLN‐Related Dilated Cardiomyopathy

PLOD1 2261 97% Ehlers‐Danlos Syndrome, Kyphoscoliotic Form

PLOD2 2464 98% Bruck Syndrome 2

PLOD3 2297 92% .

PLP1 862 100% PLP1‐Related Disorders

PLP2 572 99% .

PLRG1 1648 100% .

PLS1 1950 100% .

PLS3 1953 100% .





PLSCR1 989 100% .

PLSCR2 923 95% .

PLSCR3 916 93% .

PLSCR4 1022 100% .

PLSCR5 844 91% .

PLTP 1542 97% .

PLVAP 1353 100% .

PLXDC1 1559 94% .

PLXDC2 1646 98% .

PLXNA1 5815 100% .

PLXNA2 5809 100% .

PLXNA3 5744 99% .

PLXNA4 6375 99% .

PLXNB1 6588 98% .

PLXNB2 5657 96% .

PLXNB3 6095 96% .

PLXNC1 4831 94% .

PLXND1 5932 86% .

PM20D1 1561 96%PM20D1 1561 96% .

PM20D2 1339 79% .

PMAIP1 268 81% .

PMCH 510 100% .

PMEL 2030 100% .

PMEPA1 917 85% .

PMF1 754 100% .

PMF1‐BGLAP 831 99% .

PMFBP1 3104 100% .

PML 3702 99% .

PMM1 906 99% .

PMM2 773 97% Congenital Disorders of Glycosylation

PMM2 773 97% PMM2‐CDG (CDG‐Ia)

PMP2 415 100% .





PMP22 499 87% Charcot‐Marie‐Tooth Neuropathy Type 1

PMP22 499 87% Charcot‐Marie‐Tooth Neuropathy Type 1A

PMP22 499 87% Charcot‐Marie‐Tooth Neuropathy Type 1E

PMP22 499 87% Hereditary Neuropathy with Liability to Pressure Palsies

PMPCA 2055 99% .

PMPCB 1864 93% .

PMS1 2976 100% Hereditary Non‐Polyposis Colon Cancer

PMS1 2976 100% PMS1‐Related Hereditary Non‐polyposis Colon Cancer

PMS2 2649 99% Hereditary Non‐Polyposis Colon Cancer

PMS2 2649 99% PMS2‐Related Hereditary Non‐Polyposis Colon Cancer

PMS2 2649 99% PMS2‐Related Turcot Syndrome

PMS2 2649 99% Turcot Syndrome

PMVK 599 100% .

PNCK 1582 98% .

PNISR 2458 100% .

PNKD 1563 88% Familial Paroxysmal Nonkinesigenic Dyskinesia

PNKP 1630 95% Microcephaly, Seizures, and Developmental Delay

PNLDC1 1635 100% .

PNLIP 1446 100%PNLIP 1446 100% .

PNLIPRP1 1452 100% .

PNLIPRP2 1114 97% .

PNLIPRP3 1452 100% .

PNMA1 1066 100% .

PNMA2 1099 100% .

PNMA3 1396 100% .

PNMA5 1351 100% .

PNMA6A 1205 0% .

PNMA6C 1204 0% .

PNMA6D 1205 0% .

PNMAL1 1350 100% .

PNMAL2 1446 100% .

PNMT 861 96% .





PNN 2190 100% .

PNO1 926 100% .

PNOC 539 100% .

PNP 894 99% Purine Nucleoside Phosphorylase Deficiency

PNPLA1 1661 99% .

PNPLA2 1551 76% Neutral Lipid Storage Disease with Myopathy

PNPLA3 1482 100% .

PNPLA4 786 100% .

PNPLA5 1326 85% .

PNPLA6 4260 94% Spastic Paraplegia 39

PNPLA7 4179 96% .

PNPLA8 2386 100% .

PNPO 814 88% Pyridoxamine 5‐Prime‐Phosphate Oxidase Deficiency

PNPT1 2495 100% .

PNRC1 992 85% .

PNRC2 424 40% .

POC1A 1268 98% .

POC1B 1745 86% .

POC1B GALNT4 1233 80%POC1B‐GALNT4 1233 80% .

POC5 1785 100% .

PODN 2062 95% .

PODNL1 1572 83% .

PODXL 1761 92% .

PODXL2 1850 84% .

POF1B 1858 100% .

POFUT1 1242 95% .

POFUT2 1465 99% .

POGK 1846 100% .

POGLUT1 1375 91% .

POGZ 4346 100% .

POLA1 4555 100% .

POLA2 1869 100% .





POLB 1064 100% .

POLD1 3509 90% .

POLD2 1450 100% .

POLD3 1449 100% .

POLD4 340 92% .

POLDIP2 11 0% .

POLDIP3 1365 100% .

POLE 7061 99% .

POLE2 1660 97% .

POLE3 460 99% .

POLE4 370 57% .

POLG 3808 99% Alpers‐Huttenlocher Syndrome

POLG 3808 99% Autosomal Dominant Progressive External Ophthalmoplegia

POLG 3808 99% Autosomal Recessive Progressive External Ophthalmoplegia

POLG 3808 99% Childhood Myocerebrohepatopathy Spectrum Disorders

POLG 3808 99% Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG‐Related

POLG 3808 99% Myoclonic Epilepsy Myopathy Sensory Ataxia

POLG 3808 99% POLG‐Related Ataxia Neuropathy Spectrum Disorders

POLG 3808 99% POLG Related DisordersPOLG 3808 99% POLG‐Related Disorders

POLG2 1490 100% Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 4

POLH 2182 100% POLH‐Related Xeroderma Pigmentosum

POLH 2182 100% Xeroderma Pigmentosum

POLI 2263 95% .

POLK 2732 100% .

POLL 2008 100% .

POLM 1929 92% .

POLN 2962 100% .

POLQ 8013 100% .

POLR1A 5299 100% .

POLR1B 3473 100% .

POLR1C 1133 100% .

POLR1D 761 100% .





POLR1E 1570 99% .

POLR2A 6029 100% .

POLR2B 3635 100% .

POLR2C 864 100% .

POLR2D 445 99% .

POLR2E 661 100% .

POLR2F 404 100% .

POLR2G 551 100% .

POLR2H 548 100% .

POLR2I 402 100% .

POLR2J 400 100% .

POLR2J2 584 21% .

POLR2J3 584 25% .

POLR2K 189 100% .

POLR2L 212 100% .

POLR2M 1123 99% .

POLR3A 4297 100% .

POLR3B 3514 100% .

POLR3C 1661 100%POLR3C 1661 100% .

POLR3D 1229 99% .

POLR3E 2306 99% .

POLR3F 987 100% .

POLR3G 728 100% .

POLR3GL 685 100% .

POLR3H 933 90% .

POLR3K 339 100% .

POLRMT 3798 91% .

POM121 3154 95% .

POM121C 3163 83% .

POM121L12 895 100% .

POM121L2 3112 100% .

POMC 812 96% Monogenic Non‐Syndromic Obesity, Autosomal Recessive





POMC 812 96% Proopiomelanocortin Deficiency

POMGNT1 2361 100% Limb‐Girdle Muscular Dystrophy Type 3C

POMGNT1 2361 100% Limb‐Girdle Muscular Dystrophy, Type 3C

POMGNT1 2361 100% Muscle‐Eye‐Brain Disease

POMGNT1 2361 100% POMGNT1‐Related Muscle Diseases

POMP 450 99% .

POMT1 2555 96% Limb‐Girdle Muscular Dystrophy Type 2K

POMT1 2555 96% POMT1‐Related Muscle Diseases

POMT1 2555 96% Walker‐Warburg Syndrome

POMT2 2501 95% Limb‐Girdle Muscular Dystrophy Type 2N

POMT2 2501 95% POMT2‐Related Muscle Diseases

POMT2 2501 95% Walker‐Warburg Syndrome

POMZP3 942 85% .

PON1 1104 100% .

PON2 1105 93% .

PON3 1123 100% .

POP1 3135 100% .

POP4 691 100% .

POP5 512 100%POP5 512 100% .

POP7 427 100% .

POPDC2 1209 100% .

POPDC3 911 100% .

POR 2430 100% Cytochrome P450 Oxidoreductase Deficiency

PORCN 1455 95% Focal Dermal Hypoplasia

POSTN 2603 100% .

POT1 1965 100% .

POTEA 1545 100% .

POTEB 3358 19% .

POTEC 1807 100% .

POTED 1799 37% .

POTEE 3288 85% .

POTEF 3318 86% .





POTEG 1567 89% .

POTEH 1678 77% .

POTEM 1567 64% .

POU1F1 978 100% POU1F1‐Related Combined Pituitary Hormone Deficiency

POU2AF1 791 100% .

POU2F1 2397 97% .

POU2F2 1791 87% .

POU2F3 1364 99% .

POU3F1 1360 53% .

POU3F2 1336 83% .

POU3F3 1507 61% .

POU3F4 1090 100% DFNX2 Nonsyndromic Hearing Loss and Deafness

POU4F1 1268 72% .

POU4F2 1238 100% .

POU4F3 1025 100% DFNA15 Nonsyndromic Hearing Loss and Deafness

POU4F3 1025 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

POU5F1 1259 97% .

POU5F1B 1084 100% .

POU5F2 1 0%POU5F2 1 0% .

POU6F1 926 100% .

POU6F2 2116 100% .

PP2D1 1905 100% .

PPA1 914 93% .

PPA2 1053 100% .

PPAN 1470 89% .

PPAN‐P2RY11 2580 94% .

PPAP2A 1039 96% .

PPAP2B 960 100% .

PPAP2C 1010 89% .

PPAPDC1A 844 93% .

PPAPDC1B 912 93% .

PPAPDC2 892 94% .





PPAPDC3 824 100% .

PPARA 1462 100% .

PPARD 1359 100% .

PPARG 1547 100% Cardiovascular Disease Risk Factor (Carotid Intimal Medial Thickness 1)

PPARG 1547 100% Diabetes Mellitus, Noninsulin‐Dependent, with Acanthosis Nigricans and Hypertension

PPARG 1547 100% Familial Partial Lipodystrophy Type 3

PPARGC1A 2515 100% .

PPARGC1B 3376 99% .

PPAT 1598 100% .

PPBP 399 100% .

PPCDC 635 100% .

PPCS 978 100% .

PPDPF 431 100% .

PPEF1 2026 100% .

PPEF2 2329 100% .

PPFIA1 3721 100% .

PPFIA2 3664 98% .

PPFIA3 3697 97% .

PPFIA4 2181 100%PPFIA4 2181 100% .

PPFIBP1 3227 100% .

PPFIBP2 2723 99% .

PPHLN1 1628 100% .

PPIA 522 100% .

PPIAL4A 1497 18% .

PPIAL4B 1497 18% .

PPIAL4C 998 0% .

PPIAL4D 2 0% .

PPIAL4E 1 0% .

PPIAL4F 2 0% .

PPIAL4G 499 100% .

PPIB 671 100% PPIB‐Related Osteogenesis Imperfecta

PPIC 659 99% .





PPID 1197 100% .

PPIE 1169 100% .

PPIF 710 74% .

PPIG 2313 100% .

PPIH 805 100% .

PPIL1 517 100% .

PPIL2 1672 100% .

PPIL3 620 82% .

PPIL4 1538 98% .

PPIL6 1050 79% .

PPIP5K1 4583 38% .

PPIP5K2 3785 100% .

PPL 5359 100% .

PPM1A 1415 100% .

PPM1B 1563 100% .

PPM1D 1842 95% .

PPM1E 2296 92% .

PPM1F 1494 97% .

PPM1G 1700 95%PPM1G 1700 95% .

PPM1H 1585 100% .

PPM1J 1558 96% .

PPM1K 1143 100% .

PPM1L 1099 100% .

PPM1M 1364 87% .

PPM1N 1746 88% .

PPME1 1217 100% .

PPOX 1482 100% Variegate Porphyria

PPP1CA 1054 100% .

PPP1CB 1120 96% .

PPP1CC 1075 100% .

PPP1R10 3003 94% .

PPP1R11 414 95% .





PPP1R12A 3193 99% .

PPP1R12B 3277 100% .

PPP1R12C 2437 83% .

PPP1R13B 3341 100% .

PPP1R13L 2786 89% .

PPP1R14A 460 66% .

PPP1R14B 460 98% .

PPP1R14C 514 91% .

PPP1R14D 623 81% .

PPP1R15A 2033 100% .

PPP1R15B 2150 100% .

PPP1R16A 1627 85% .

PPP1R16B 1744 98% .

PPP1R17 484 100% .

PPP1R18 1874 99% .

PPP1R1A 555 87% .

PPP1R1B 676 100% .

PPP1R1C 371 100% .

PPP1R2 642 100%PPP1R2 642 100% .

PPP1R21 2541 100% .

PPP1R26 3634 97% .

PPP1R27 477 86% .

PPP1R32 1326 100% .

PPP1R35 778 92% .

PPP1R36 1317 97% .

PPP1R37 2312 51% .

PPP1R3A 3385 100% .

PPP1R3B 862 100% .

PPP1R3C 962 100% .

PPP1R3D 904 74% .

PPP1R3F 2416 77% .

PPP1R3G 1081 36% .





PPP1R42 707 100% .

PPP1R7 1141 100% .

PPP1R8 1084 95% .

PPP1R9A 4229 100% .

PPP1R9B 10 0% .

PPP2CA 958 100% .

PPP2CB 958 99% .

PPP2R1A 1950 90% .

PPP2R1B 2089 100% .

PPP2R2A 1425 97% .

PPP2R2B 1630 99% Spinocerebellar Ataxia Type12

PPP2R2C 1456 95% .

PPP2R2D 1297 100% .

PPP2R3A 3641 100% .

PPP2R3B 1793 93% .

PPP2R3C 1414 100% .

PPP2R4 1622 99% .

PPP2R5A 1514 93% .

PPP2R5B 1627 92%PPP2R5B 1627 92% .

PPP2R5C 1931 98% .

PPP2R5D 1920 100% .

PPP2R5E 1460 100% .

PPP3CA 1622 100% .

PPP3CB 1759 97% .

PPP3CC 1626 96% .

PPP3R1 537 99% .

PPP3R2 526 100% .

PPP4C 956 100% .

PPP4R1 2933 98% .

PPP4R2 1298 97% .

PPP4R4 2795 100% .

PPP5C 1552 100% .





PPP6C 1061 97% .

PPP6R1 2924 100% .

PPP6R2 2995 97% .

PPP6R3 2733 99% .

PPPDE1 605 100% .

PPPDE2 531 100% .

PPRC1 5051 97% .

PPT1 957 100% Neuronal Ceroid‐Lipofuscinoses

PPT1 957 100% Neuronal Ceroid‐Lipofuscinosis, Classic Late Infantile

PPT1 957 100% Neuronal Ceroid‐Lipofuscinosis, Infantile

PPT1 957 100% Neuronal Ceroid‐Lipofuscinosis, Juvenile

PPT1 957 100% PPT1‐Related Neuronal Ceroid‐Lipofuscinosis

PPT2 1031 93% .

PPTC7 939 80% .

PPWD1 1989 100% .

PPY 300 76% .

PPYR1 1132 100% .

PQBP1 920 99% Renpenning Syndrome 1

PQLC1 836 100%PQLC1 836 100% .

PQLC2 904 100% .

PQLC3 671 84% .

PRAC 182 43% .

PRADC1 587 89% .

PRAF2 635 89% .

PRAM1 2053 100% .

PRAME 1550 100% .

PRAMEF1 1437 100% .

PRAMEF10 1437 77% .

PRAMEF11 1323 100% .

PRAMEF12 1464 100% .

PRAMEF13 1437 32% .

PRAMEF14 2874 34% .





PRAMEF15 2898 5% .

PRAMEF16 1437 32% .

PRAMEF17 1437 65% .

PRAMEF18 2697 37% .

PRAMEF19 2697 37% .

PRAMEF2 1437 100% .

PRAMEF20 2880 12% .

PRAMEF21 2880 12% .

PRAMEF22 2916 22% .

PRAMEF3 1458 5% .

PRAMEF4 1449 98% .

PRAMEF5 2892 24% .

PRAMEF6 2886 40% .

PRAMEF7 1440 36% .

PRAMEF8 2877 18% .

PRAMEF9 2898 5% .

PRAP1 481 100% .

PRB1 613 84% .

PRB2 1263 100%PRB2 1263 100% .

PRB3 1069 100% .

PRB4 756 100% .

PRC1 1923 100% .

PRCC 1504 91% .

PRCD 177 98% .

PRCP 1594 100% .

PRDM1 2519 100% .

PRDM10 3603 100% .

PRDM11 1567 100% .

PRDM12 1124 85% .

PRDM13 2173 82% .

PRDM14 1744 99% .

PRDM15 4648 93% .





PRDM16 3902 98% .

PRDM2 5259 100% .

PRDM4 2450 100% .

PRDM5 1957 100% .

PRDM6 1820 79% .

PRDM7 1519 100% .

PRDM8 2082 71% .

PRDM9 2725 100% .

PRDX1 620 100% .

PRDX2 805 94% .

PRDX3 799 95% .

PRDX4 929 99% .

PRDX5 669 99% .

PRDX6 695 100% .

PREB 1363 100% .

PRELID1 783 100% .

PRELID2 619 87% .

PRELP 1157 100% .

PREP 2193 99%PREP 2193 99% .

PREPL 2363 100% .

PREX1 5240 97% .

PREX2 5252 100% .

PRF1 1676 100% Familial Hemophagocytic Lymphohistiocytosis

PRF1 1676 100% Familial Hemophagocytic Lymphohistiocytosis 2

PRG2 689 100% .

PRG3 698 100% .

PRG4 4263 100% .

PRH1 517 100% .

PRH2 535 100% .

PRHOXNB 530 50% .

PRIC285 8151 90% .

PRICKLE1 2524 100% Progressive Myoclonus Epilepsy with Ataxia





PRICKLE2 2563 100% .

PRICKLE3 2201 87% .

PRICKLE4 1191 100% .

PRIM1 1315 99% .

PRIM2 1579 100% .

PRIMA1 478 79% .

PRKAA1 1765 100% .

PRKAA2 1695 98% .

PRKAB1 841 100% .

PRKAB2 847 95% .

PRKACA 1122 96% .

PRKACB 1398 100% .

PRKACG 1060 100% .

PRKAG1 1044 100% .

PRKAG2 1774 100% Familial Hypertrophic Cardiomyopathy with Wolff‐Parkinson‐White Syndrome, PRKAG2‐Related

PRKAG2 1774 100% Familial Hypertrophic Cardiomyopathy with Wolff‐Parkinson‐White Syndrome, PRKAG2‐Related (268573)

PRKAG2 1774 100% Glycogen Storage Disease of Heart, Lethal Congenital

PRKAG2 1774 100% Wolff‐Parkinson‐White Syndrome

PRKAG3 1522 100%PRKAG3 1522 100% .

PRKAR1A 1186 100% Carney Complex

PRKAR1B 1186 97% .

PRKAR2A 1262 98% .

PRKAR2B 1301 83% .

PRKCA 2087 100% .

PRKCB 2247 100% .

PRKCD 2353 100% .

PRKCDBP 794 94% .

PRKCE 2274 100% .

PRKCG 2166 97% Spinocerebellar Ataxia Type14

PRKCH 2108 100% .

PRKCI 1863 99% .

PRKCQ 2189 100% .





PRKCSH 1672 98% Polycystic Liver Disease

PRKCZ 1878 87% .

PRKD1 2826 99% .

PRKD2 2739 98% .

PRKD3 2745 100% .

PRKDC 12730 99% .

PRKG1 2403 100% .

PRKG2 2361 100% .

PRKRA 1010 97% Dystonia 16

PRKRIP1 677 99% .

PRKRIR 2306 96% .

PRKX 1109 88% .

PRL 707 100% .

PRLH 272 86% .

PRLHR 1117 99% .

PRLR 2027 100% .

PRM1 164 100% .

PRM2 431 100% .

PRM3 313 83%PRM3 313 83% .

PRMT1 1355 99% .

PRMT10 2586 100% .

PRMT2 1702 97% .

PRMT3 1847 90% .

PRMT5 2045 100% .

PRMT6 1132 99% .

PRMT7 2147 97% .

PRMT8 1267 100% .

PRND 535 100% .

PRNP 766 100% Familial Creutzfeldt‐Jakob Disease

PRNP 766 100% Fatal Familial Insomnia

PRNP 766 100% Genetic Prion Diseases

PRNP 766 100% Gerstmann‐Straussler‐Scheinker Disease





PRNP 766 100% Huntington Disease‐Like 1

PROC 1621 90% Protein C Deficiency

PROCA1 1030 100% .

PROCR 733 100% .

PRODH 2013 77% Hyperprolinemia, Type I

PRODH2 1655 94% .

PROK1 330 100% .

PROK2 406 76% Kallmann Syndrome

PROK2 406 76% Kallmann Syndrome 4

PROKR1 1190 100% .

PROKR2 1163 100% Kallmann Syndrome

PROKR2 1163 100% Kallmann Syndrome 3

PROL1 755 100% .

PROM1 2702 100% Cone‐Rod Dystrophy 12

PROM1 2702 100% PROM1‐Related Retinitis Pigmentosa

PROM1 2702 100% Retinitis Pigmentosa, Autosomal Recessive

PROM2 2658 97% .

PROP1 693 100% PROP1‐Related Combined Pituitary Hormone Deficiency

PROS1 2091 100% Protein S DeficiencyPROS1 2091 100% Protein S Deficiency

ProSAPiP1 2034 96% .

PROSC 860 91% .

PROSER1 2935 100% .

PROX1 2232 100% .

PROX2 1795 100% .

PROZ 1305 96% .

PRPF18 1069 100% .

PRPF19 1579 97% .

PRPF3 2112 100% PRPF 3‐Related Retinitis Pigmentosa

PRPF3 2112 100% Retinitis Pigmentosa, Autosomal Dominant

PRPF31 1556 89% PRPF31‐Related Retinitis Pigmentosa


PRPF38A 979 100% .





PRPF38B 1665 100% .

PRPF39 2116 100% .

PRPF4 1625 100% .

PRPF40A 3227 100% .

PRPF40B 3092 95% .

PRPF4B 3084 99% .

PRPF6 2910 100% .

PRPF8 7176 100% PRPF 8‐Related Retinitis Pigmentosa


PRPH 1452 90% .

PRPH2 1053 100% Patterned Dystrophy of Retinal Pigment Epithelium

PRPH2 1053 100% PRPH2‐Related Adult‐Onset Vitelliform Macular Dystrophy

PRPH2 1053 100% PRPH2‐Related Cone‐Rod Dystrophy

PRPH2 1053 100% PRPH2‐Related Retinitis Pigmentosa

PRPH2 1053 100% Retinitis Pigmentosa, Autosomal Dominant

PRPS1 1087 100% Arts Syndrome

PRPS1 1087 100% Charcot‐Marie‐Tooth Neuropathy X

PRPS1 1087 100% Charcot‐Marie‐Tooth Neuropathy X Type 5

PRPS1 1087 100% DFNX1 Nonsyndromic Hearing Loss and DeafnessPRPS1 1087 100% DFNX1 Nonsyndromic Hearing Loss and Deafness

PRPS1 1087 100% DFNX1(DFN2) Nonsyndromic Hearing Loss and Deafness

PRPS1 1087 100% Phosphoribosylpyrophosphate Synthetase Superactivity

PRPS1 1087 100% PRPS1‐Related Charcot‐Marie‐Tooth Neuropathy X Type 5

PRPS1 1087 100% PRPS1‐Related Disorders

PRPS1L1 961 100% .

PRPS2 1067 100% .

PRPSAP1 1202 87% .

PRPSAP2 1150 100% .

PRR11 1119 100% .

PRR12 6167 92% .

PRR13 459 87% .

PRR14 1802 100% .

PRR14L 6488 100% .





PRR15 394 95% .

PRR15L 316 100% .

PRR16 854 89% .

PRR18 892 64% .

PRR19 1079 100% .

PRR20A 3370 0% .

PRR20B 3370 0% .

PRR20C 3370 0% .

PRR20D 3370 0% .

PRR20E 3370 0% .

PRR21 1174 58% .

PRR22 1281 83% .

PRR23A 805 88% .

PRR23B 802 92% .

PRR23C 793 90% .

PRR24 433 1% .

PRR25 1221 85% .

PRR3 607 96% .

PRR4 440 100%PRR4 440 100% .

PRR5 1340 93% .

PRR5‐ARHGAP8 1806 95% .

PRR5L 1140 100% .

PRR7 833 75% .

PRR9 355 100% .

PRRC1 1499 100% .

PRRC2A 6775 97% .

PRRC2B 6817 100% .

PRRC2C 8595 98% .

PRRG1 751 89% .

PRRG2 633 85% .

PRRG3 849 100% .

PRRG4 701 100% .





PRRT1 1595 87% .

PRRT2 1056 100% .

PRRT3 3053 82% .

PRRT4 2716 54% .

PRRX1 813 100% .

PRRX2 778 64% .

PRSS1 764 100% Hereditary Pancreatitis

PRSS1 764 100% PRSS1‐Related Hereditary Pancreatitis

PRSS12 2680 98% .

PRSS16 1593 98% .

PRSS2 422 94% .

PRSS21 969 76% .

PRSS22 978 90% .

PRSS23 1156 100% .

PRSS27 897 98% .

PRSS3 1113 87% .

PRSS33 868 67% .

PRSS35 1246 100% .

PRSS36 2628 89%PRSS36 2628 89% .

PRSS37 728 100% .

PRSS38 1001 100% .

PRSS41 5 0% .

PRSS42 905 89% .

PRSS45 808 100% .

PRSS46 4 0% .

PRSS48 1007 100% .

PRSS50 1182 97% .

PRSS53 1706 97% .

PRSS54 1208 100% .

PRSS55 1174 100% .

PRSS56 13 0% .

PRSS57 872 77% .





PRSS58 746 100% .

PRSS8 1066 100% .

PRTFDC1 732 99% .

PRTG 3533 97% .

PRTN3 791 85% .

PRUNE 1394 100% .

PRUNE2 9355 100% .

PRX 4465 98% Charcot‐Marie‐Tooth Neuropathy Type 4

PRX 4465 98% Charcot‐Marie‐Tooth Neuropathy Type 4F

PRY 912 0% .

PRY2 912 0% .

PSAP 1647 97% Combined Saposin Deficiency

PSAP 1647 97% Saposin A Deficiency

PSAP 1647 97% Saposin B Deficiency

PSAP 1647 97% Saposin C Deficiency

PSAPL1 1570 100% .

PSAT1 1284 96% .

PSCA 416 94% .

PSD 3139 100%PSD 3139 100% .

PSD2 2372 100% .

PSD3 3250 100% .

PSD4 3415 96% .

PSEN1 1519 100% Alzheimer Disease Type 3

PSEN1 1519 100% Dilated Cardiomyopathy

PSEN1 1519 100% Early‐Onset Familial Alzheimer Disease

PSEN1 1519 100% PSEN1‐Related Dilated Cardiomyopathy

PSEN2 1407 100% Alzheimer Disease Type 4

PSEN2 1407 100% Dilated Cardiomyopathy

PSEN2 1407 100% Early‐Onset Familial Alzheimer Disease

PSEN2 1407 100% PSEN2‐Related Dilated Cardiomyopathy

PSENEN 318 100% .

PSG1 1337 100% .





PSG11 1046 100% .

PSG2 1028 100% .

PSG3 1311 100% .

PSG4 1284 100% .

PSG5 1066 100% .

PSG6 1550 95% .

PSG7 1284 100% .

PSG8 1322 100% .

PSG9 1550 100% .

PSIP1 1682 100% .

PSKH1 1283 100% .

PSKH2 1170 100% .

PSMA1 907 100% .

PSMA2 742 100% .

PSMA3 812 100% .

PSMA4 818 100% .

PSMA5 762 100% .

PSMA6 769 100% .

PSMA7 916 91%PSMA7 916 91% .

PSMA8 799 100% .

PSMB1 765 100% .

PSMB10 1046 96% .

PSMB11 907 100% .

PSMB2 726 100% .

PSMB3 642 100% .

PSMB4 823 100% .

PSMB5 893 100% .

PSMB6 744 94% .

PSMB7 866 100% .

PSMB8 1044 95% .

PSMB9 726 86% .

PSMC1 1367 100% .





PSMC2 1350 100% .

PSMC3 1368 93% .

PSMC3IP 686 100% .

PSMC4 1301 100% .

PSMC5 1269 96% .

PSMC6 1298 100% .

PSMD1 3083 99% .

PSMD10 728 100% .

PSMD11 1321 100% .

PSMD12 1415 100% .

PSMD13 1264 100% .

PSMD14 973 100% .

PSMD2 2921 94% .

PSMD3 1654 88% .

PSMD4 1218 99% .

PSMD5 1710 100% .

PSMD6 1202 98% .

PSMD7 1003 100% .

PSMD8 1081 91%PSMD8 1081 91% .

PSMD9 696 96% .

PSME1 878 98% .

PSME2 810 100% .

PSME3 848 100% .

PSME4 5785 98% .

PSMF1 844 100% .

PSMG1 901 100% .

PSMG2 823 100% .

PSMG3 377 100% .

PSMG4 605 45% .

PSORS1C1 510 96% .

PSORS1C2 429 98% .

PSPC1 1608 100% .





PSPH 773 100% .

PSPN 479 57% .

PSRC1 1148 100% .

PSTK 1160 99% .

PSTPIP1 1397 99% Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne

PSTPIP2 1069 97% .

PTAFR 1033 100% .

PTAR1 1318 98% .

PTBP1 1734 100% .

PTBP2 1670 100% .

PTBP3 2005 100% .

PTCD1 2157 100% .

PTCD2 1305 100% .

PTCD3 2171 100% .

PTCH1 4645 100% Holoprosencephaly

PTCH1 4645 100% Nevoid Basal Cell Carcinoma Syndrome

PTCH1 4645 100% PTCH1‐Related Holoprosencephaly

PTCH2 3720 97% .

PTCHD1 2679 100%PTCHD1 2679 100% .

PTCHD2 4259 100% .

PTCHD3 2320 100% .

PTCRA 909 86% .

PTDSS1 1474 100% .

PTDSS2 1512 88% .

PTEN 1248 100% Bannayan‐Riley‐Ruvalcaba Syndrome

PTEN 1248 100% Cowden Syndrome

PTEN 1248 100% Macrocephaly/Autism Syndrome

PTEN 1248 100% PTEN Hamartoma Tumor Syndrome (PHTS)

PTEN 1248 100% VACTERL Association with Hydrocephalus

PTER 1066 100% .

PTF1A 995 54% Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis

PTGDR 1088 100% .





PTGDR2 1192 58% .

PTGDS 1083 92% .

PTGER1 1217 36% .

PTGER2 1085 100% .

PTGER3 1544 98% .

PTGER4 1475 100% .

PTGES 471 72% .

PTGES2 1166 81% .

PTGES3 515 100% .

PTGFR 1163 100% .

PTGFRN 2676 98% .

PTGIR 1169 72% .

PTGIS 1543 95% .

PTGR1 1031 100% .

PTGR2 1092 100% .

PTGS1 1934 100% .

PTGS2 1855 97% .

PTH 356 100% Familial Isolated Hypoparathyroidism

PTH 356 100% PTH Related Familial Isolated HypoparathyroidismPTH 356 100% PTH‐Related Familial Isolated Hypoparathyroidism

PTH1R 2457 96% Chondrodysplasia, Blomstrand Type

PTH1R 2457 96% Chondrodysplasia, Blomstrand Type (3590)

PTH1R 2457 96% Metaphyseal Chondrodysplasia, Jansen Type

PTH2 311 100% .

PTH2R 1705 100% .

PTHLH 550 100% .

PTK2 3329 100% .

PTK2B 3329 100% .

PTK6 1388 91% .

PTK7 3910 95% .

PTMA 356 100% .

PTMS 330 85% .

PTN 523 100% .





PTOV1 1339 87% .

PTP4A1 542 100% .

PTP4A2 524 100% .

PTP4A3 542 89% .

PTPDC1 2549 100% .

PTPLA 895 71% .

PTPLAD1 1133 100% .

PTPLAD2 727 94% .

PTPLB 793 82% .

PTPMT1 727 92% .

PTPN1 1348 95% .

PTPN11 1846 99% LEOPARD Syndrome

PTPN11 1846 99% Noonan Syndrome

PTPN11 1846 99% PTPN11‐Related LEOPARD Syndrome

PTPN11 1846 99% PTPN11‐Related Noonan Syndrome

PTPN12 2417 100% .

PTPN13 7662 100% .

PTPN14 3636 100% .

PTPN18 1446 84%PTPN18 1446 84% .

PTPN2 1311 98% .

PTPN20A 2650 17% .

PTPN20B 2650 17% .

PTPN21 3597 100% .

PTPN22 2531 100% .

PTPN23 5011 100% .

PTPN3 2958 100% .

PTPN4 3017 100% .

PTPN5 1901 96% .

PTPN6 2009 100% .

PTPN7 1725 88% .

PTPN9 1834 96% .

PTPRA 2493 100% .





PTPRB 6846 100% .

PTPRC 4060 100% .

PTPRCAP 629 92% .

PTPRD 5949 99% .

PTPRE 2262 100% .

PTPRF 6217 98% .

PTPRG 4462 99% .

PTPRH 3428 99% .

PTPRJ 4123 98% .

PTPRK 4465 99% .

PTPRM 4540 100% .

PTPRN 3032 98% .

PTPRN2 3140 89% .

PTPRO 3965 97% .

PTPRQ 6557 9% .

PTPRR 2044 100% .

PTPRS 5995 94% .

PTPRT 4520 97% .

PTPRU 4487 96%PTPRU 4487 96% .

PTPRZ1 7072 100% .

PTRF 1181 100% .

PTRH1 1085 82% .

PTRH2 544 100% .

PTRHD1 431 100% .

PTS 462 98% 6‐Pyruvoyltetrahydropterin Synthase Deficiency

PTTG1 629 100% .

PTTG1IP 894 82% .

PTTG2 580 100% .

PTX3 1158 83% .

PTX4 1434 100% .

PUF60 1728 96% .

PUM1 3665 100% .





PUM2 3281 100% .

PURA 973 94% .

PURB 943 100% .

PURG 1157 99% .

PUS1 1308 93% Mitochondrial Myopathy and Sideroblastic Anemia

PUS10 1658 100% .

PUS3 1458 100% .

PUS7 2046 100% .

PUS7L 2138 100% .

PUSL1 944 72% .

PVALB 349 100% .

PVR 1315 94% .

PVRIG 1001 95% .

PVRL1 2024 100% Cleft Lip +/‐ Cleft Palate

PVRL2 2055 92% .

PVRL3 2249 68% .

PVRL4 1569 100% .

PWP1 1566 100% .

PWP2 2844 97%PWP2 2844 97% .

PWWP2A 2418 77% .

PWWP2B 1799 90% .

PXDC1 716 95% .

PXDN 4612 96% .

PXDNL 4484 95% .

PXK 1809 94% .

PXMP2 715 83% .

PXMP4 675 100% .

PXN 1971 96% .

PXT1 417 59% .

PYCARD 600 98% .

PYCR1 1124 98% .

PYCR2 991 95% .





PYCRL 885 87% .

PYDC1 274 100% .

PYDC2 1 0% .

PYGB 2612 100% .

PYGL 2624 100% Glycogen Storage Disease Type VI

PYGM 2609 100% Glycogen Storage Disease Type V

PYGO1 1272 100% .

PYGO2 1233 91% .

PYHIN1 1538 100% .

PYROXD1 1551 100% .

PYROXD2 1810 100% .

PYY 518 100% .

PZP 4627 100% .

QARS 2551 100% .

QDPR 763 100% Dihydropteridine Reductase Deficiency (DHPR)

QKI 1595 80% .

QPCT 1114 100% .

QPCTL 1177 96% .

QPRT 1011 100%QPRT 1011 100% .

QRFP 415 100% .

QRFPR 1320 100% .

QRICH1 2369 100% .

QRICH2 5068 100% .

QRSL1 1742 99% .

QSER1 5465 100% .

QSOX1 2305 88% .

QSOX2 2145 94% .

QTRT1 1501 100% .

QTRTD1 1301 100% .

R3HCC1 1095 90% .

R3HDM1 3438 100% .

R3HDM2 3019 100% .





R3HDM4 839 90% .

R3HDML 782 100% .

RAB10 627 100% .

RAB11A 806 100% .

RAB11B 706 99% .

RAB11FIP1 3909 99% .

RAB11FIP2 1559 100% .

RAB11FIP3 2346 81% .

RAB11FIP4 1977 81% .

RAB11FIP5 1982 99% .

RAB12 759 93% .

RAB13 644 100% .

RAB14 676 100% .

RAB15 798 100% .

RAB17 659 100% .

RAB18 740 97% .

RAB19 724 100% .

RAB1A 642 100% .

RAB1B 630 98%RAB1B 630 98% .

RAB20 713 100% .

RAB21 706 99% .

RAB22A 613 94% .

RAB23 738 100% .

RAB24 796 100% .

RAB25 662 100% .

RAB26 807 80% .

RAB27A 686 100% Griscelli Syndrome, Type 2

RAB27B 677 100% .

RAB28 834 93% .

RAB2A 799 94% .

RAB2B 683 100% .

RAB30 628 100% .





RAB31 616 100% .

RAB32 690 100% .

RAB33A 722 100% .

RAB33B 698 100% .

RAB34 1063 99% .

RAB35 1460 57% .

RAB36 1168 99% .

RAB37 1114 98% .

RAB38 648 100% .

RAB39A 662 100% .

RAB39B 650 100% X‐Linked Mental Retardation 72

RAB3A 679 100% .

RAB3B 676 100% .

RAB3C 704 100% .

RAB3D 676 100% .

RAB3GAP1 3189 100% Warburg Micro Syndrome

RAB3GAP2 4322 100% .

RAB3IL1 1189 95% .

RAB3IP 1535 100%RAB3IP 1535 100% .

RAB40A 838 100% .

RAB40AL 841 100% .

RAB40B 861 100% .

RAB40C 870 100% .

RAB41 701 100% .

RAB42 323 100% .

RAB43 735 87% .

RAB4A 689 95% .

RAB4B 791 99% .

RAB5A 682 100% .

RAB5B 668 100% .

RAB5C 672 100% .

RAB6A 769 100% .





RAB6B 659 100% .

RAB6C 769 99% .

RAB7A 644 100% Charcot‐Marie‐Tooth Neuropathy Type 2

RAB7A 644 100% Charcot‐Marie‐Tooth Neuropathy Type 2B

RAB7L1 632 100% .

RAB8A 806 100% .

RAB8B 656 100% .

RAB9A 610 100% .

RAB9B 610 100% .

RABAC1 578 100% .

RABEP1 2661 99% .

RABEP2 1762 98% .

RABEPK 1147 100% .

RABGAP1 3444 100% .

RABGAP1L 3641 99% .

RABGEF1 1525 100% .

RABGGTA 1768 100% .

RABGGTB 1076 100% .

RABIF 380 100%RABIF 380 100% .

RABL2A 752 98% .

RABL2B 752 99% .

RABL3 743 100% .

RABL5 613 100% .

RAC1 664 97% .

RAC2 603 91% .

RAC3 603 94% .

RACGAP1 1963 100% .

RAD1 869 100% .

RAD17 2123 100% .

RAD18 1544 100% .

RAD21 1948 100% .

RAD21L1 1723 100% .





RAD23A 1128 100% .

RAD23B 1373 98% .

RAD50 4039 100% .

RAD51 1185 89% .

RAD51AP1 1147 100% .

RAD51AP2 3492 100% .

RAD51B 1301 100% .

RAD51C 1174 100% Fanconi Anemia

RAD51C 1174 100% RAD51C‐Related Breast/Ovarian Cancer

RAD51C 1174 100% RAD51C‐Related Fanconi Anemia

RAD51D 1210 100% .

RAD52 1356 100% .

RAD54B 3319 100% .

RAD54L 2316 100% .

RAD54L2 4488 100% .

RAD9A 1220 99% .

RAD9B 1417 100% .

RADIL 3498 84% .

RAE1 1151 100%RAE1 1151 100% .

RAET1E 809 100% .

RAET1G 1060 84% .

RAET1L 757 100% .

RAF1 2011 100% LEOPARD Syndrome

RAF1 2011 100% Noonan Syndrome

RAF1 2011 100% RAF1‐Related LEOPARD Syndrome

RAF1 2011 100% RAF1‐Related Noonan Syndrome

RAG1 3136 100% Omenn Syndrome

RAG1 3136 100% Severe Combined Immune Deficiency, Autosomal Recessive, T Cell‐Negative, B Cell‐Negative, NK Cell‐Positive, RAG1/RAG2‐Related

RAG2 1588 100% Omenn Syndrome

RAG2 1588 100% Severe Combined Immune Deficiency, Autosomal Recessive, T Cell‐Negative, B Cell‐Negative, NK Cell‐Positive, RAG1/RAG2‐Related

RAI1 5929 100% Smith‐Magenis Syndrome

RAI14 3080 98% .





RAI2 1597 100% .

RALA 637 100% .

RALB 684 100% .

RALBP1 2004 100% .

RALGAPA1 6492 100% .

RALGAPA2 5845 98% .

RALGAPB 4604 100% .

RALGDS 3231 86% .

RALGPS1 1978 99% .

RALGPS2 1874 100% .

RALY 949 100% .

RALYL 643 94% .

RAMP1 459 88% .

RAMP2 559 82% .

RAMP3 459 87% .

RAN 735 91% .

RANBP1 1117 90% .

RANBP10 2056 97% .

RANBP17 3567 95%RANBP17 3567 95% .

RANBP2 9792 100% Susceptibility to Acute Necrotizing Encephalopathy 1

RANBP3 1775 100% .

RANBP3L 1596 95% .

RANBP6 3322 100% .

RANBP9 2246 88% .

RANGAP1 1824 95% .

RANGRF 713 100% .

RAP1A 579 100% .

RAP1B 584 100% .

RAP1GAP 2571 95% .

RAP1GAP2 2289 97% .

RAP1GDS1 1945 100% .

RAP2A 560 100% .





RAP2B 556 98% .

RAP2C 560 100% .

RAPGEF1 3402 100% .

RAPGEF2 4604 100% .

RAPGEF3 3085 97% .

RAPGEF4 3194 98% .

RAPGEF5 2624 100% .

RAPGEF6 5391 100% .

RAPGEFL1 1442 99% .

RAPH1 3994 100% .

RAPSN 1271 92% Congenital Myasthenic Syndromes

RAPSN 1271 92% RAPSN‐Related Congenital Myasthenic Syndrome

RAPSN 1271 92% RAPSN‐Related Fetal Akinesia Deformation Sequence

RARA 2126 100% .

RARB 1379 100% .

RARG 1552 94% .

RARRES1 1037 62% .

RARRES2 508 90% .

RARRES3 595 100%RARRES3 595 100% .

RARS 2043 98% .

RARS2 1817 100% Pontocerebellar Hypoplasia Type 6

RASA1 3256 98% Capillary Malformation‐Arteriovenous Malformation Syndrome

RASA1 3256 98% Hereditary Benign Telangiectasia

RASA1 3256 98% Parkes Weber Syndrome, RASA1‐Related

RASA1 3256 98% RASA1‐Related Disorders

RASA2 2771 98% .

RASA3 2622 93% .

RASA4 2496 15% .

RASAL1 2502 92% .

RASAL2 3953 99% .

RASAL3 3104 77% .

RASD1 854 99% .





RASD2 809 100% .

RASEF 2291 97% .

RASGEF1A 1500 98% .

RASGEF1B 1669 100% .

RASGEF1C 1453 95% .

RASGRF1 3934 99% .

RASGRF2 3822 100% .

RASGRP1 2469 98% .

RASGRP2 2072 92% .

RASGRP3 2154 100% .

RASGRP4 2094 97% .

RASIP1 2936 61% .

RASL10A 628 32% .

RASL10B 624 100% .

RASL11A 745 97% .

RASL11B 763 100% .

RASL12 821 96% .

RASSF1 1222 85% .

RASSF10 1569 96%RASSF10 1569 96% .

RASSF2 1021 100% .

RASSF3 737 100% .

RASSF4 1422 100% .

RASSF5 1441 75% .

RASSF6 1154 95% .

RASSF7 1212 76% .

RASSF8 1321 100% .

RASSF9 1316 96% .

RAVER1 2408 95% .

RAVER2 2124 88% .

RAX 1053 71% Anophthalmia/Microphthalmia

RAX 1053 71% RAX‐Related Anophthalmia/Microphthalmia

RAX2 563 73% Age‐Related Macular Degeneration





RAX2 563 73% Age‐Related Macular Degeneration 6

RAX2 563 73% Cone‐Rod Dystrophy 11

RB1 2895 95% Retinoblastoma

RB1CC1 4873 100% .

RBAK 2161 100% .

RBAK‐LOC389458 390 82% .

RBBP4 1326 99% .

RBBP5 1673 96% .

RBBP6 5505 99% .

RBBP7 1631 100% .

RBBP8 2788 100% .

RBBP9 581 100% .

RBCK1 1600 94% .

RBFA 1060 100% .

RBFOX1 1411 100% .

RBFOX2 1457 90% .

RBFOX3 1124 59% .

RBKS 1001 100% .

RBL1 3304 100%RBL1 3304 100% .

RBL2 3508 98% .

RBM10 2886 98% TARP Syndrome

RBM11 870 100% .

RBM12 2825 100% .

RBM12B 3010 100% .

RBM14 2022 100% .

RBM14‐RBM4 1052 100% .

RBM15 2943 100% .

RBM15B 2677 89% .

RBM17 1351 100% .

RBM18 593 100% .

RBM19 2979 100% .

RBM20 3740 80% .





RBM22 1307 100% .

RBM23 1372 96% .

RBM24 773 100% .

RBM25 2604 100% .

RBM26 3039 100% .

RBM27 3267 98% .

RBM28 2356 100% .

RBM3 698 97% .

RBM33 3722 99% .

RBM34 1568 99% .

RBM38 736 99% .

RBM39 1658 100% .

RBM4 1253 91% .

RBM41 1279 100% .

RBM42 1483 98% .

RBM43 1090 100% .

RBM44 3215 100% .

RBM45 1471 100% .

RBM46 1618 100%RBM46 1618 100% .

RBM47 1798 100% .

RBM48 1239 100% .

RBM4B 1088 100% .

RBM5 2569 100% .

RBM6 3548 100% .

RBM7 821 100% .

RBM8A 549 100% .

RBMS1 1273 100% .

RBMS2 1276 100% .

RBMS3 1425 100% .

RBMX 1263 100% .

RBMX2 997 100% .

RBMXL1 1177 100% .





RBMXL2 1183 84% .

RBMXL3 3208 95% .

RBMY1A1 4610 10% .

RBMY1B 6150 13% .

RBMY1D 6150 13% .

RBMY1E 4615 8% .

RBMY1F 3070 5% .

RBMY1J 3070 5% .

RBP1 723 88% .

RBP2 421 100% .

RBP3 3760 100% .

RBP4 626 100% .

RBP5 424 100% .

RBP7 476 100% .

RBPJ 1610 100% .

RBPJL 1612 92% .

RBPMS 845 98% .

RBPMS2 658 88% .

RBX1 347 100%RBX1 347 100% .

RC3H1 3481 100% .

RC3H2 3808 100% .

RCAN1 866 75% Down Syndrome Critical Region

RCAN2 839 100% .

RCAN3 742 100% .

RCBTB1 1640 100% .

RCBTB2 1704 100% .

RCC1 1408 100% .

RCC2 1617 98% .

RCCD1 1159 64% .

RCE1 1022 98% .

RCHY1 864 100% .

RCL1 1328 100% .





RCN1 1020 96% .

RCN2 982 85% .

RCN3 1011 80% .

RCOR1 1497 82% .

RCOR2 1620 78% .

RCOR3 1743 100% .

RCSD1 1279 99% .

RCVRN 615 100% .

RD3 596 99% Leber Congenital Amaurosis

RD3 596 99% RD3‐Related Leber Congenital Amaurosis

RDBP 1305 96% .

RDH10 1050 76% .

RDH11 985 100% .

RDH12 979 100% LCA3‐Related Leber Congenital Amaurosis

RDH12 979 100% Leber Congenital Amaurosis

RDH12 979 100% RDH12‐Related Leber Congenital Amaurosis

RDH13 1024 94% .

RDH14 1019 61% .

RDH16 970 100%RDH16 970 100% .

RDH5 973 100% RDH5‐Related Fundus Albipunctatus

RDH8 960 100% .

RDM1 960 100% .

RDX 1804 100% DFNB24 Nonsyndromic Hearing Loss and Deafness

RDX 1804 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

REC8 1717 100% .

RECK 3000 97% .

RECQL 2008 100% .

RECQL4 3712 96% Baller‐Gerold Syndrome

RECQL4 3712 96% Rapadilino Syndrome

RECQL4 3712 96% RECQL4‐Related Disorders

RECQL4 3712 96% Rothmund‐Thomson Syndrome

RECQL5 3216 99% .





REEP1 692 95% Spastic Paraplegia 31

REEP2 797 100% .

REEP3 800 98% .

REEP4 806 100% .

REEP5 590 100% .

REEP6 1571 79% .

REG1A 521 100% .

REG1B 617 100% .

REG3A 548 100% .

REG3G 548 100% .

REG4 737 100% .

REL 1908 99% .

RELA 1700 99% .

RELB 1775 94% .

RELL1 840 97% .

RELL2 936 100% .

RELN 10648 100% Lissencephaly 2

RELT 1564 97% .

REM1 913 98%REM1 913 98% .

REM2 1043 83% .

REN 1261 100% Familial Juvenile Hyperuricemic Nephropathy Type 2

RENBP 1332 96% .

REP15 715 100% .

REPIN1 1883 98% .

REPS1 2471 100% .

REPS2 2055 87% .

RER1 725 100% .

RERE 4789 91% .

RERG 616 100% .

RERGL 638 100% .

RESP18 719 95% .

REST 3321 100% .





RET 3457 96% Hirschsprung Disease

RET 3457 96% Multiple Endocrine Neoplasia Type 2

RET 3457 96% RET‐Related Hirschsprung Disease

RETN 339 94% .

RETNLB 348 100% .

RETSAT 1877 100% .

REV1 3844 100% .

REV3L 9562 100% .

REXO1 4182 79% .

REXO1L1 3788 16% .

REXO2 742 100% .

REXO4 1301 100% .

RFC1 3564 100% .

RFC2 1188 100% .

RFC3 1150 100% .

RFC4 1136 100% .

RFC5 1073 99% .

RFESD 653 100% .

RFFL 1116 100%RFFL 1116 100% .

RFK 505 97% .

RFNG 1419 75% .

RFPL1 962 100% .

RFPL2 1235 100% .

RFPL3 969 100% .

RFPL4A 881 94% .

RFPL4B 796 100% .

RFT1 1870 98% Congenital Disorders of Glycosylation

RFT1 1870 98% RFT1‐CDG (CDG‐In)

RFTN1 1773 100% .

RFTN2 1542 96% .

RFWD2 2280 91% .

RFWD3 2373 100% .





RFX1 3020 88% .

RFX2 2240 89% .

RFX3 2473 100% .

RFX4 2485 99% .

RFX5 1887 100% .

RFX6 2863 100% .

RFX7 4421 100% .

RFX8 1530 100% .

RFXANK 815 100% .

RFXAP 831 68% .

RG9MTD1 1216 100% .

RG9MTD2 1048 100% .

RG9MTD3 983 100% .

RGAG1 4175 100% .

RGAG4 1714 100% .

RGL1 2484 100% .

RGL2 2646 96% .

RGL3 2209 91% .

RGL4 1982 96%RGL4 1982 96% .

RGMA 1370 99% .

RGMB 1453 84% .

RGN 924 99% .

RGNEF 5499 97% .

RGP1 1227 100% .

RGPD1 10576 24% .

RGPD2 10726 25% .

RGPD3 5369 86% .

RGPD4 5369 79% .

RGPD5 16404 19% .

RGPD6 11014 0% .

RGPD8 5390 56% .

RGR 922 100% Retinitis Pigmentosa, Autosomal Recessive





RGR 922 100% RGR‐Related Retinitis Pigmentosa

RGS1 650 100% .

RGS10 602 91% .

RGS11 1781 66% .

RGS12 4496 100% .

RGS13 496 100% .

RGS14 1764 98% .

RGS16 629 95% .

RGS17 649 100% .

RGS18 728 100% .

RGS19 674 96% .

RGS2 656 100% .

RGS20 1264 98% .

RGS21 4 0% .

RGS22 3919 99% .

RGS3 4373 97% .

RGS4 933 95% .

RGS5 566 100% .

RGS6 1555 100%RGS6 1555 100% .

RGS7 1532 100% .

RGS7BP 798 100% .

RGS8 651 100% .

RGS9 2158 100% .

RGS9BP 712 67% .

RGSL1 21 0% .

RHAG 1270 100% .

RHBDD1 1040 100% .

RHBDD2 1111 84% .

RHBDD3 1181 87% .

RHBDF1 2880 89% .

RHBDF2 2998 99% .

RHBDL1 1424 93% .





RHBDL2 1065 100% .

RHBDL3 1424 91% .

RHBG 1602 95% .

RHCE 1385 99% .

RHCG 1480 100% .

RHD 1509 91% .

RHEB 587 99% .

RHEBL1 630 100% .

RHO 1067 100% Congenital Stationary Night Blindness, Autosomal Dominant 1

RHO 1067 100% Retinitis Pigmentosa, Autosomal Dominant

RHO 1067 100% Retinitis Pigmentosa, Autosomal Recessive

RHO 1067 100% RHO‐Related Retinitis Pigmentosa

RHOA 598 100% .

RHOB 595 100% .

RHOBTB1 2127 100% .

RHOBTB2 2222 100% .

RHOBTB3 2044 100% .

RHOC 677 100% .

RHOD 653 81%RHOD 653 81% .

RHOF 656 70% .

RHOG 580 100% .

RHOH 580 100% .

RHOJ 665 100% .

RHOQ 638 100% .

RHOT1 2563 89% .

RHOT2 1933 98% .

RHOU 789 86% .

RHOV 801 85% .

RHOXF1 567 100% .

RHOXF2 1766 44% .

RHOXF2B 1766 44% .

RHPN1 2145 97% .





RHPN2 2121 97% .

RIBC1 1199 100% .

RIBC2 952 99% .

RIC3 1170 100% .

RIC8A 1654 100% .

RIC8B 1599 95% .

RICTOR 5279 100% .

RIF1 7559 100% .

RIIAD1 295 0% .

RILP 1238 65% .

RILPL1 1240 98% .

RILPL2 652 99% .

RIMBP2 3227 99% .

RIMBP3 4924 53% .

RIMBP3B 9848 3% .

RIMBP3C 9848 3% .

RIMKLA 1196 86% .

RIMKLB 1181 100% .

RIMS1 5221 97% Cone Rod Dystrophy 7RIMS1 5221 97% Cone‐Rod Dystrophy 7

RIMS2 4482 100% .

RIMS3 951 100% .

RIMS4 834 96% .

RIN1 2607 90% .

RIN2 2883 100% .

RIN3 3147 98% .

RING1 1275 98% .

RINL 1394 85% .

RINT1 2439 99% .

RIOK1 1775 97% .

RIOK2 1966 100% .

RIOK3 1612 100% .

RIPK1 2056 100% .





RIPK2 1667 100% .

RIPK3 1629 100% .

RIPK4 2429 100% .

RIPPLY1 520 100% .

RIPPLY2 403 77% .

RIT1 723 100% .

RIT2 674 100% .

RLBP1 982 100% Newfoundland Rod‐Cone Dystrophy

RLBP1 982 100% Retinitis Pigmentosa, Autosomal Recessive

RLBP1 982 100% Retinitis Pigmentosa, Autosomal Recessive, Bothnia Type

RLBP1 982 100% RLBP1‐Related Fundus Albipunctatus

RLF 5777 100% .

RLIM 1887 100% .

RLN1 566 100% .

RLN2 671 84% .

RLN3 437 100% .

RLTPR 4460 93% .

RMI1 1882 100% .

RMI2 452 48%RMI2 452 48% .

RMND1 1394 100% .

RMND5A 1212 93% .

RMND5B 1313 100% .

RNASE1 475 100% .

RNASE10 660 100% .

RNASE11 604 100% .

RNASE12 448 100% .

RNASE13 475 100% .

RNASE2 490 100% .

RNASE3 487 100% .

RNASE4 448 100% .

RNASE6 457 100% .

RNASE7 475 100% .





RNASE8 469 100% .

RNASE9 639 100% .

RNASEH1 897 100% .

RNASEH2A 932 98% Aicardi‐Goutieres Syndrome

RNASEH2A 932 98% RNASEH2A‐Related Aicardi‐Goutieres Syndrome

RNASEH2B 1020 90% Aicardi‐Goutieres Syndrome

RNASEH2B 1020 90% RNASEH2B‐Related Aicardi‐Goutieres Syndrome

RNASEH2C 511 92% Aicardi‐Goutieres Syndrome

RNASEH2C 511 92% RNASEH2C‐Related Aicardi‐Goutieres Syndrome

RNASEK 343 100% .

RNASEL 2250 100% Prostate Cancer

RNASET2 1166 93% .

RND1 719 100% .

RND2 704 85% .

RND3 755 100% .

RNF10 2519 100% .

RNF103 2076 100% .

RNF103‐CHMP3 788 100% .

RNF11 477 100%RNF11 477 100% .

RNF111 3064 100% .

RNF112 14 0% .

RNF113A 1036 100% .

RNF113B 977 100% .

RNF114 766 91% .

RNF115 951 100% .

RNF121 1030 93% .

RNF122 492 100% .

RNF123 4154 100% .

RNF125 723 100% .

RNF126 972 68% .

RNF128 1725 98% .

RNF13 1192 100% .





RNF130 1296 91% .

RNF133 1135 100% .

RNF135 1388 69% .

RNF138 766 100% .

RNF139 2003 100% .

RNF14 1453 100% .

RNF141 713 100% .

RNF144A 911 100% .

RNF144B 940 100% .

RNF145 2123 100% .

RNF146 1088 100% .

RNF148 922 100% .

RNF149 1231 100% .

RNF150 1365 100% .

RNF151 748 100% .

RNF152 616 100% .

RNF157 2116 99% .

RNF165 1073 100% .

RNF166 738 62%RNF166 738 62% .

RNF167 1089 100% .

RNF168 1740 100% .

RNF169 2151 81% .

RNF17 5027 100% .

RNF170 1012 100% .

RNF175 1067 93% .

RNF180 1831 97% .

RNF181 807 100% .

RNF182 748 100% .

RNF183 583 100% .

RNF185 714 100% .

RNF186 688 100% .

RNF187 397 78% .





RNF19A 2553 100% .

RNF19B 2261 72% .

RNF2 1035 100% .

RNF20 3004 100% .

RNF207 1973 76% .

RNF208 790 99% .

RNF212 1514 100% .

RNF213 17054 83% .

RNF214 2168 100% .

RNF215 1254 77% .

RNF216 2936 100% .

RNF217 902 100% .

RNF219 2205 100% .

RNF220 1958 100% .

RNF222 667 48% .

RNF223 754 1% .

RNF224 416 1% .

RNF24 534 89% .

RNF25 1420 100%RNF25 1420 100% .

RNF26 1306 100% .

RNF31 3303 99% .

RNF32 1138 100% .

RNF34 1156 100% .

RNF38 1596 100% .

RNF39 1321 81% .

RNF4 657 100% .

RNF40 3238 96% .

RNF41 974 100% .

RNF43 2388 98% .

RNF44 1600 82% .

RNF5 652 94% .

RNF6 2070 100% .





RNF7 354 96% .

RNF8 1584 97% .

RNFT1 1344 100% .

RNFT2 1442 100% .

RNGTT 1978 100% .

RNH1 1422 100% .

RNLS 1133 100% .

RNMT 1471 100% .

RNMTL1 1494 100% .

RNPC3 1610 27% .

RNPEP 1997 78% .

RNPEPL1 1523 94% .

RNPS1 1176 100% .

ROBO1 5187 100% .

ROBO2 4248 100% Vesicoureteral Reflux 2

ROBO3 4273 99% Familial Horizontal Gaze Palsy with Progressive Scoliosis

ROBO4 3096 100% .

ROCK1 4197 100% .

ROCK2 4308 100%ROCK2 4308 100% .

ROGDI 908 79% .

ROM1 1068 100% Retinitis Pigmentosa, Autosomal Dominant

ROM1 1068 100% ROM1‐Related Retinitis Pigmentosa

ROMO1 271 100% .

ROPN1 720 100% .

ROPN1B 720 100% .

ROPN1L 713 100% .

ROR1 2858 97% .

ROR2 2868 96% Brachydactyly, Type B1

ROR2 2868 96% ROR2‐Related Disorders

ROR2 2868 96% ROR2‐Related Robinow Syndrome

RORA 2096 91% .

RORB 1420 100% .





RORC 1612 100% .

ROS1 7216 100% .

RP1 6483 100% Retinitis Pigmentosa, Autosomal Dominant

RP1 6483 100% RP1‐Related Retinitis Pigmentosa

RP1L1 7215 100% .

RP2 1073 90% Retinitis Pigmentosa, X‐Linked


RP9 690 78% Retinitis Pigmentosa, Autosomal Dominant


RPA1 1919 97% .

RPA2 1109 100% .

RPA3 382 100% .

RPA4 790 100% .

RPAIN 754 100% .

RPAP1 4278 100% .

RPAP2 1891 96% .

RPAP3 2062 100% .

RPE 769 100% .

RPE65 1658 100% Leber Congenital AmaurosisRPE65 1658 100% Leber Congenital Amaurosis

RPE65 1658 100% Retinitis Pigmentosa, Autosomal Recessive

RPE65 1658 100% RPE65‐Related Leber Congenital Amaurosis

RPE65 1658 100% RPE65‐Related Retinitis Pigmentosa

RPF1 1110 100% .

RPF2 1000 100% .

RPGR 4689 85% Retinitis Pigmentosa, X‐Linked

RPGR 4689 85% RPGR‐Related Retinitis Pigmentosa

RPGRIP1 4034 100% Cone‐Rod Dystrophy 13

RPGRIP1 4034 100% Leber Congenital Amaurosis

RPGRIP1 4034 100% RPGRIP1‐Related Leber Congenital Amaurosis

RPGRIP1L 4052 96% Joubert Syndrome

RPGRIP1L 4052 96% Meckel Syndrome

RPGRIP1L 4052 96% Nephronophthisis 8





RPGRIP1L 4052 96% RPGRIP1L‐Related Joubert Syndrome

RPGRIP1L 4052 96% RPGRIP1L‐Related Meckel Syndrome

RPH3A 2165 99% .

RPH3AL 980 85% .

RPIA 972 99% Ribose 5‐Phosphate Isomerase Deficiency

RPL10 732 100% .

RPL10A 678 100% .

RPL10L 649 100% .

RPL11 591 100% Diamond‐Blackfan Anemia

RPL11 591 100% RPL11‐Related Diamond‐Blackfan Anemia

RPL12 526 93% .

RPL13 656 100% .

RPL13A 644 100% .

RPL14 835 85% .

RPL15 724 89% .

RPL17 580 100% .

RPL17‐C18ORF32 697 100% .

RPL18 707 100% .

RPL18A 551 96%RPL18A 551 96% .

RPL19 615 99% .

RPL21 503 100% .

RPL22 403 97% .

RPL22L1 452 100% .

RPL23 443 100% .

RPL23A 491 95% .

RPL24 558 100% .

RPL26 478 100% .

RPL26L1 450 100% .

RPL27 427 100% .

RPL27A 467 100% .

RPL28 856 75% .

RPL29 573 100% .





RPL3 1530 99% .

RPL30 364 100% .

RPL31 466 100% .

RPL32 474 100% .

RPL34 370 100% .

RPL35 389 100% .

RPL35A 353 100% Diamond‐Blackfan Anemia

RPL35A 353 100% RPL35A‐Related Diamond‐Blackfan Anemia

RPL36 330 96% .

RPL36A 380 100% .

RPL36A‐HNRNPH2 1762 100% .

RPL36AL 325 100% .

RPL37 376 100% .

RPL37A 295 100% .

RPL38 229 100% .

RPL39 168 99% .

RPL39L 160 100% .

RPL3L 1264 100% .

RPL4 1324 100%RPL4 1324 100% .

RPL41 90 100% .

RPL5 930 100% Diamond‐Blackfan Anemia

RPL5 930 100% RPL5‐Related Diamond‐Blackfan Anemia

RPL6 891 100% .

RPL7 780 100% .

RPL7A 833 100% .

RPL7L1 765 100% .

RPL8 794 100% .

RPL9 604 100% .

RPLP0 982 100% .

RPLP1 361 97% .

RPLP2 364 100% .

RPN1 1864 87% .





RPN2 2472 85% .

RPP14 395 100% .

RPP21 630 92% .

RPP25 604 83% .

RPP30 1098 90% .

RPP38 856 100% .

RPP40 1124 100% .

RPRD1A 967 100% .

RPRD1B 1009 100% .

RPRD2 4453 100% .

RPRM 334 100% .

RPRML 367 87% .

RPS10 518 100% Diamond‐Blackfan Anemia

RPS10 518 100% RPS10‐Related Diamond‐Blackfan Anemia

RPS10‐NUDT3 908 100% .

RPS11 497 100% .

RPS12 419 100% .

RPS13 480 100% .

RPS14 472 100%RPS14 472 100% .

RPS15 454 92% .

RPS15A 409 100% .

RPS16 552 100% .



RPS17L 856 0% .

RPS18 509 94% .



RPS19BP1 427 92% .

RPS2 906 100% .

RPS20 476 78% .

RPS21 490 100% .





RPS23 546 100% .



RPS25 394 100% .



RPS27 357 100% .

RPS27A 491 100% .

RPS27L 339 100% .

RPS28 438 98% .

RPS29 229 100% .

RPS3 756 100% .

RPS3A 819 100% .

RPS4X 820 100% .

RPS4Y1 820 100% .

RPS4Y2 820 100% .

RPS5 635 100% .

RPS6 912 100% .

RPS6KA1 2435 96%RPS6KA1 2435 96% .

RPS6KA2 2480 99% .

RPS6KA3 2311 97% Coffin‐Lowry Syndrome

RPS6KA4 2387 92% .

RPS6KA5 2483 100% .

RPS6KA6 2326 100% .

RPS6KB1 1657 100% .

RPS6KB2 1703 99% .

RPS6KC1 3261 100% .

RPS6KL1 1794 95% .



RPS8 651 100% .

RPS9 665 100% .





RPSA 927 100% .

RPTN 2363 100% .

RPTOR 4144 97% .

RPUSD1 959 98% .

RPUSD2 1650 99% .

RPUSD3 1321 100% .

RPUSD4 1162 100% .

RQCD1 932 100% .

RRAD 943 82% .

RRAGA 946 100% .

RRAGB 1169 100% .

RRAGC 1228 84% .

RRAGD 1231 91% .

RRAS 681 96% .

RRAS2 640 100% .

RRBP1 4325 100% .

RREB1 5289 92% .

RRH 1042 100% .

RRM1 2455 99%RRM1 2455 99% .

RRM2 1415 89% .

RRM2B 1093 100% Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form

RRM2B 1093 100% Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 5

RRM2B 1093 100% RRM2B‐Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy

RRN3 2088 100% .

RRNAD1 1460 100% .

RRP1 1530 84% .

RRP12 4030 99% .

RRP15 869 100% .

RRP1B 2341 94% .

RRP36 808 89% .

RRP7A 871 92% .

RRP8 1399 98% .





RRP9 1488 98% .

RRS1 1102 93% .

RS1 699 100% X‐Linked Juvenile Retinoschisis

RSAD1 1365 90% .

RSAD2 1110 100% .

RSBN1 2437 100% .

RSBN1L 2573 100% .

RSC1A1 1858 100% .

RSF1 4390 97% .

RSG1 797 95% .

RSL1D1 1509 100% .

RSL24D1 516 100% .

RSPH1 966 100% .

RSPH10B 5378 57% .

RSPH10B2 5378 57% .

RSPH3 1715 100% .

RSPH4A 2175 100% Primary Ciliary Dyskinesia

RSPH4A 2175 100% Primary Ciliary Dyskinesia11: RSPH4A‐Related Primary Ciliary Dyskinesia

RSPH6A 2178 100%RSPH6A 2178 100% .

RSPH9 990 100% Primary Ciliary Dyskinesia

RSPH9 990 100% Primary Ciliary Dyskinesia12: RSPH9‐Related Primary Ciliary Dyskinesia

RSPO1 829 100% .

RSPO2 752 100% .

RSPO3 839 100% .

RSPO4 725 81% Anonychia Congenita

RSPRY1 1787 100% .

RSRC1 1074 100% .

RSRC2 1370 100% .

RSU1 871 100% .

RTBDN 814 89% .

RTCD1 1192 100% .

RTDR1 1071 91% .





RTEL1 4326 99% .

RTF1 2205 91% .

RTKN 1816 100% .

RTKN2 1882 98% .

RTL1 1 0% .

RTN1 2432 88% .

RTN2 1682 100% .

RTN3 3209 100% .

RTN4 3657 94% .

RTN4IP1 1227 100% .

RTN4R 1430 95% .

RTN4RL1 1334 99% .

RTN4RL2 1275 94% .

RTP1 800 100% .

RTP2 686 100% .

RTP3 707 100% .

RTP4 749 100% .

RTTN 6877 100% .

RUFY1 2199 88%RUFY1 2199 88% .

RUFY2 2234 100% .

RUFY3 2398 85% .

RUFY4 1820 100% .

RUNDC1 1862 83% .

RUNDC3A 1409 79% .

RUNDC3B 1470 97% .

RUNX1 1664 83% Familial Platelet Disorder with Associated Myeloid Malignancy

RUNX1T1 1873 100% .

RUNX2 1680 96% Cleidocranial Dysplasia

RUNX3 1338 95% .

RUSC1 2876 94% .

RUSC1‐AS1 1 0% .

RUSC2 4595 100% .





RUVBL1 1451 100% .

RUVBL2 1557 100% .

RWDD1 760 100% .

RWDD2A 887 100% .

RWDD2B 980 100% .

RWDD3 835 94% .

RWDD4 592 97% .

RXFP1 2428 100% .

RXFP2 2337 100% .

RXFP3 1414 100% .

RXFP4 1129 100% .

RXRA 1429 98% .

RXRB 1706 89% .

RXRG 1432 100% .

RYBP 968 88% .

RYK 1889 88% .

RYR1 15544 94% Central Core Disease

RYR1 15544 94% Malignant Hyperthermia Susceptibility

RYR1 15544 94% Multiminicore DiseaseRYR1 15544 94% Multiminicore Disease

RYR1 15544 94% RYR1‐Related Malignant Hyperthermia Susceptibility

RYR1 15544 94% RYR1‐Related Multiminicore Disease

RYR2 15325 100% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 2

RYR2 15325 100% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant

RYR2 15325 100% Catecholaminergic Polymorphic Ventricular Tachycardia

RYR2 15325 100% RYR2‐Related Catecholaminergic Polymorphic Ventricular Tachycardia

RYR3 15044 100% .

S100A1 306 100% .

S100A10 302 100% .

S100A11 330 100% .

S100A12 296 100% .

S100A13 305 100% .

S100A14 327 100% .





S100A16 320 100% .

S100A2 305 100% .

S100A3 314 100% .

S100A4 314 100% .

S100A5 301 100% .

S100A6 281 100% .

S100A7 314 100% .

S100A7A 314 100% .

S100A7L2 351 94% .

S100A8 290 100% .

S100A9 353 100% .

S100B 287 100% .

S100G 248 100% .

S100P 296 100% .

S100PBP 1249 100% .

S100Z 308 100% .

S1PR1 1409 95% .

S1PR2 1066 100% .

S1PR3 1141 100%S1PR3 1141 100% .

S1PR4 1159 90% .

S1PR5 1201 96% .

SAA1 381 100% .

SAA2 407 94% .

SAA2‐SAA4 643 100% .

SAA4 405 100% .

SAAL1 1473 100% .

SAC3D1 1224 44% .

SACM1L 1844 99% .

SACS 13776 99% ARSACS

SAE1 1151 91% .

SAFB 2838 82% .

SAFB2 2988 84% .





SAG 1577 100% Oguchi Disease 1

SAG 1577 100% Retinitis Pigmentosa, Autosomal Recessive

SAG 1577 100% SAG‐Related Retinitis Pigmentosa

SAGE1 2791 100% .

SALL1 3987 100% Townes‐Brocks Syndrome

SALL2 3032 100% .

SALL3 3915 87% .

SALL4 3178 100% Acro‐Renal‐Ocular Syndrome

SALL4 3178 100% Duane‐Radial Ray Syndrome

SALL4 3178 100% SALL4‐Related Disorders

SAMD1 1346 50% .

SAMD10 629 85% .

SAMD11 2193 77% .

SAMD12 650 100% .

SAMD13 367 100% .

SAMD14 1378 88% .

SAMD15 2037 100% .

SAMD3 1658 99% .

SAMD4A 2314 96%SAMD4A 2314 96% .

SAMD4B 2133 100% .

SAMD5 530 99% .

SAMD7 1369 100% .

SAMD8 1321 100% .

SAMD9 4774 100% .

SAMD9L 4759 100% .

SAMHD1 1996 100% SAMHD1‐Related Aicardi‐Goutieres Syndrome

SAMM50 1470 99% .

SAMSN1 1511 100% .

SAP130 3337 99% .

SAP18 647 100% .

SAP25 616 69% .

SAP30 679 99% .





SAP30BP 971 100% .

SAP30L 568 99% .

SAPCD1 582 95% .

SAR1A 639 100% .

SAR1B 621 100% .

SARDH 2905 94% Sarcosinemia

SARM1 2209 77% .

SARNP 677 100% .

SARS 1589 100% .

SARS2 1702 97% .

SART1 2483 90% .

SART3 2968 100% .

SASH1 3828 100% .

SASH3 1325 100% .

SASS6 2042 100% .

SAT1 860 100% .

SAT2 774 100% .

SATB1 2443 98% .

SATB2 2242 94%SATB2 2242 94% .

SATL1 2067 99% .

SAV1 1172 100% .

SAYSD1 560 100% .

SBDS 777 100% Shwachman‐Diamond Syndrome

SBF1 5849 96% .

SBF2 5804 99% Charcot‐Marie‐Tooth Neuropathy Type 4

SBF2 5804 99% Charcot‐Marie‐Tooth Neuropathy Type 4B2

SBK1 1287 76% .

SBK2 1059 67% .

SBNO1 4306 100% .

SBNO2 4582 82% .

SBSN 6 0% .

SC5DL 916 100% Lathosterolosis





SCAF1 3979 78% .

SCAF11 4469 100% .

SCAF4 3524 100% .

SCAF8 3899 100% .

SCAI 1969 97% .

SCAMP1 516 100% .

SCAMP2 1026 94% .

SCAMP3 1080 100% .

SCAMP4 759 100% .

SCAMP5 756 100% .

SCAND1 545 74% .

SCAND3 3998 100% .

SCAP 3985 98% .

SCAPER 4438 100% .

SCARA3 1881 92% .

SCARA5 1570 91% .

SCARB1 1702 95% .

SCARB2 1485 100% .

SCARF1 2541 79%SCARF1 2541 79% .

SCARF2 2657 67% .

SCCPDH 1338 97% .

SCD 1104 100% .

SCD5 1219 100% .

SCEL 2195 100% .

SCFD1 2053 99% .

SCFD2 2091 100% .

SCG2 1858 100% .

SCG3 1455 100% .

SCG5 797 100% .

SCGB1A1 288 100% .

SCGB1C1 300 100% .

SCGB1D1 285 100% .





SCGB1D2 285 100% .

SCGB1D4 264 100% .

SCGB2A1 300 100% .

SCGB2A2 294 100% .

SCGB2B2 303 86% .

SCGB3A1 327 78% .

SCGB3A2 294 100% .

SCGN 875 100% .

SCHIP1 1594 88% .

SCIMP 479 100% .

SCIN 2212 99% .

SCLT1 2151 100% .

SCLY 1702 82% .

SCMH1 2179 100% .

SCML1 1021 100% .

SCML2 2162 100% .

SCML4 1305 100% .

SCN10A 5979 100% .

SCN11A 5490 100%SCN11A 5490 100% .

SCN1A 6136 100% Familial Hemiplegic Migraine

SCN1A 6136 100% Familial Hemiplegic Migraine 3

SCN1A 6136 100% SCN1A‐Related Seizure Disorders

SCN1B 1036 83% Brugada Syndrome 5

SCN1B 1036 83% SCN1B‐Related Generalized Epilepsy with Febrile Seizures Plus

SCN2A 6218 100% Benign Familial Neonatal Infantile Seizures

SCN2A 6218 100% SCN2A‐Related Generalized Epilepsy with Febrile Seizures Plus

SCN2B 664 100% .

SCN3A 6203 100% .

SCN3B 668 100% Brugada Syndrome 7

SCN4A 5608 100% Congenital Myasthenic Syndromes

SCN4A 5608 100% Hyperkalemic Periodic Paralysis Type 1

SCN4A 5608 100% Hypokalemic Periodic Paralysis





SCN4A 5608 100% Hypokalemic Periodic Paralysis Type 2

SCN4A 5608 100% Myotonia, Potassium‐Aggravated

SCN4A 5608 100% Paramyotonia Congenita of Von Eulenburg

SCN4A 5608 100% SCN4A‐Related Congenital Myasthenic Syndrome

SCN4B 771 100% Long QT Syndrome 10

SCN5A 6260 100% Brugada Syndrome

SCN5A 6260 100% Dilated Cardiomyopathy

SCN5A 6260 100% Long QT Syndrome 3

SCN5A 6260 100% LQT3‐Related Romano Ward Syndrome

SCN5A 6260 100% Paroxysmal Familial Ventricular Fibrillation 1

SCN5A 6260 100% Progressive Familial Heart Block, Type IA

SCN5A 6260 100% Progressive Familial Heart Block, Type IA (319080)

SCN5A 6260 100% Romano‐Ward Syndrome

SCN5A 6260 100% SCN5A‐Associated Dilated Cardiomyopathy

SCN5A 6260 100% SCN5A‐Related Dilated Cardiomyopathy

SCN5A 6260 100% SCN5A‐Related Disorders

SCN5A 6260 100% Sick Sinus Syndrome 1, Autosomal Recessive

SCN7A 5150 100% .

SCN8A 6064 100%SCN8A 6064 100% .

SCN9A 6075 100% Congenital Indifference to Pain, Autosomal Recessive

SCN9A 6075 100% Paroxysmal Extreme Pain Disorder

SCN9A 6075 100% SCN9A‐Related Inherited Erythromelalgia

SCNM1 721 100% .

SCNN1A 2236 100% Pseudohypoaldosteronism Type 1, Recessive

SCNN1B 1979 100% Liddle Syndrome, SCNN1B‐Related

SCNN1B 1979 100% Non‐Classic Cystic Fibrosis‐Like Syndrome

SCNN1B 1979 100% Pseudohypoaldosteronism Type 1, Recessive

SCNN1D 2287 85% .

SCNN1G 1998 100% Liddle Syndrome, SCNN1G‐Related

SCNN1G 1998 100% Pseudohypoaldosteronism Type 1, Recessive

SCO1 930 98% Leigh Syndrome (nuclear DNA mutation)

SCO1 930 98% Mitochondrial Respiratory Chain Complex IV Deficiency (nuclear genes)





SCO2 805 100% Fatal Infantile Cardioencephalomyopathy due to Cytochrome c Oxidase Deficiency

SCO2 805 100% Leigh Syndrome (nuclear DNA mutation)

SCO2 805 100% Mitochondrial Respiratory Chain Complex IV Deficiency (nuclear genes)

SCOC 570 68% .

SCP2 1762 99% .

SCPEP1 1422 98% .

SCRG1 305 100% .

SCRIB 5184 92% .

SCRN1 1389 100% .

SCRN2 1324 100% .

SCRN3 1387 100% .

SCRT1 1055 59% .

SCRT2 932 82% .

SCT 442 35% .

SCTR 1375 94% .

SCUBE1 3165 93% .

SCUBE2 3179 94% .

SCUBE3 3070 98% .

SCXA 1228 3%SCXA 1228 3% .

SCXB 1228 3% .

SCYL1 2499 94% .

SCYL2 2858 100% .

SCYL3 2281 100% .

SDAD1 2196 100% .

SDC1 953 93% .

SDC2 626 90% .

SDC3 1431 90% .

SDC4 617 98% .

SDCBP 929 100% .

SDCBP2 1001 98% .

SDCCAG3 1564 93% .

SDCCAG8 2232 100% .





SDF2 648 100% .

SDF2L1 678 62% .

SDF4 1307 100% .

SDHA 2091 99% Leigh Syndrome (nuclear DNA mutation)

SDHA 2091 99% Mitochondrial Respiratory Chain Complex II Deficiency

SDHA 2091 99% Mitochondrial Respiratory Chain Complex II Deficiency, SDHA‐Related

SDHAF1 352 40% Mitochondrial Respiratory Chain Complex II Deficiency

SDHAF1 352 40% Mitochondrial Respiratory Chain Complex II Deficiency, SDHAF1‐Related

SDHAF2 517 100% Hereditary Paraganglioma‐Pheochromocytoma Syndromes

SDHAF2 517 100% SDHAF2‐Related Hereditary Paraganglioma‐Pheochromocytoma Syndrome

SDHB 875 100% Hereditary Paraganglioma‐Pheochromocytoma Syndromes

SDHB 875 100% SDHB‐Related Hereditary Paraganglioma‐Pheochromocytoma Syndrome

SDHC 641 100% Hereditary Paraganglioma‐Pheochromocytoma Syndromes

SDHC 641 100% SDHC‐Related Hereditary Paraganglioma‐Pheochromocytoma Syndrome

SDHD 496 100% Hereditary Paraganglioma‐Pheochromocytoma Syndromes

SDHD 496 100% SDHD‐Related Hereditary Paraganglioma‐Pheochromocytoma Syndrome

SDK1 6920 95% .

SDK2 6872 98% .

SDPR 1286 100%SDPR 1286 100% .

SDR16C5 954 100% .

SDR39U1 1001 100% .

SDR42E1 1190 100% .

SDR9C7 958 100% .

SDS 1015 100% .

SDSL 1018 100% .

SEBOX 677 100% .

SEC11A 564 100% .

SEC11C 603 100% .

SEC13 1219 100% .

SEC14L1 2228 100% .

SEC14L2 1362 96% .

SEC14L3 1251 100% .





SEC14L4 1291 98% .

SEC14L5 2151 99% .

SEC14L6 1242 96% .

SEC16A 7144 99% .

SEC16B 3474 100% .

SEC22A 967 100% .

SEC22B 668 100% .

SEC22C 982 100% .

SEC23A 2374 100% .

SEC23B 2380 100% .

SEC23IP 3138 100% .

SEC24A 3477 100% .

SEC24B 3903 97% .

SEC24C 3373 100% .

SEC24D 3226 100% .

SEC31A 3859 98% .

SEC31B 3640 100% .

SEC61A1 1662 100% .

SEC61A2 1587 100%SEC61A2 1587 100% .

SEC61B 307 92% .

SEC61G 219 100% .

SEC62 1279 97% .

SEC63 2367 100% Polycystic Liver Disease

SECISBP2 2633 98% .

SECISBP2L 3378 99% .

SECTM1 763 100% .

SEH1L 1319 100% .

SEL1L 2469 100% .

SEL1L2 2147 100% .

SEL1L3 3495 95% .

SELE 1881 100% .

SELENBP1 1601 100% .





SELK 305 100% .

SELL 1194 100% .

SELM 462 84% .

SELO 2046 73% .

SELP 2564 100% .

SELPLG 1244 100% .

SELRC1 708 100% .

SELS 594 94% .

SELT 608 100% .

SELV 1061 65% .

SEMA3A 2384 100% .

SEMA3B 18 0% .

SEMA3C 2324 100% .

SEMA3D 2402 100% .

SEMA3E 2396 100% .

SEMA3F 2451 99% .

SEMA3G 2413 95% .

SEMA4A 2342 100% Cone‐Rod Dystrophy 10

SEMA4A 2342 100% Retinitis Pigmentosa Autosomal DominantSEMA4A 2342 100% Retinitis Pigmentosa, Autosomal Dominant

SEMA4A 2342 100% SEMA4A‐Related Retinitis Pigmentosa

SEMA4B 2575 97% .

SEMA4C 2558 100% .

SEMA4D 3252 97% .

SEMA4F 2369 98% .

SEMA4G 2786 96% .

SEMA5A 3309 100% .

SEMA5B 3676 93% .

SEMA6A 3175 100% .

SEMA6B 2731 73% .

SEMA6C 3248 83% .

SEMA6D 3337 100% .

SEMA7A 2057 91% .





SEMG1 1397 100% .

SEMG2 1757 100% .

SENP1 2047 100% .

SENP2 2063 100% .

SENP3 1766 100% .

SENP5 2304 100% .

SENP6 3439 98% .

SENP7 3293 100% .

SENP8 643 100% .

SEPHS1 1211 100% .

SEPHS2 1456 89% .

SEPN1 1825 83% Congenital Fiber‐Type Disproportion

SEPN1 1825 83% Multiminicore Disease

SEPN1 1825 83% SEPN1‐Related Congenital Fiber‐Type Disproportion

SEPN1 1825 83% SEPN1‐Related Multiminicore Disease

SEPN1 1825 83% SEPN1‐Related Myopathy

SEPN1 1825 83% SEPN1‐Related myopathy (319480)

SEPP1 1163 100% .

SEPSECS 1558 96%SEPSECS 1558 96% .

SEPW1 284 99% .

SEPX1 727 96% .

SERAC1 2109 100% .

SERBP1 1259 100% .

SERF1A 888 16% .

SERF1B 888 16% .

SERF2 525 100% .

SERGEF 1421 96% .

SERHL2 1009 71% .

SERINC1 1402 100% .

SERINC2 1483 96% .

SERINC3 1462 100% .

SERINC4 919 100% .





SERINC5 1473 86% .

SERP1 333 100% .

SERP2 210 100% .

SERPINA1 1288 100% Alpha1‐Antitrypsin Deficiency

SERPINA10 1351 100% .

SERPINA11 1285 100% .

SERPINA12 1261 100% .

SERPINA3 1296 100% .

SERPINA4 1300 100% .

SERPINA5 1237 100% .

SERPINA6 1234 100% .

SERPINA7 1264 100% .

SERPINA9 1410 100% .

SERPINB1 1164 100% .

SERPINB10 1231 100% .

SERPINB11 1207 100% .

SERPINB12 1306 100% .

SERPINB13 1221 100% .

SERPINB2 1276 100%SERPINB2 1276 100% .

SERPINB3 1201 100% .

SERPINB4 1206 100% .

SERPINB5 1152 100% .

SERPINB6 1165 100% .

SERPINB7 1171 100% .

SERPINB8 1162 100% .

SERPINB9 1155 100% .

SERPINC1 1423 100% Antithrombin‐III Deficiency

SERPIND1 1516 100% .

SERPINE1 1241 100% Plasminogen Activator Inhibitor I

SERPINE2 1270 99% .

SERPINE3 7 0% .

SERPINF1 1285 95% .





SERPINF2 1522 100% .

SERPING1 1675 94% Hereditary Angioedema

SERPINH1 1273 100% .

SERPINI1 1271 100% Familial Encephalopathy with Neuroserpin Inclusion Bodies

SERPINI2 1250 100% .

SERTAD1 715 99% .

SERTAD2 949 100% .

SERTAD3 595 100% .

SERTAD4 1083 100% .

SERTM1 328 100% .

SESN1 1806 94% .

SESN2 1483 94% .

SESN3 1548 100% .

SESTD1 2214 100% .

SET 1073 92% .

SETBP1 5004 98% .

SETD1A 5196 98% .

SETD1B 5840 41% .

SETD2 7779 100%SETD2 7779 100% .

SETD3 1909 100% .

SETD4 1386 100% .

SETD5 4507 100% .

SETD6 1748 80% .

SETD7 1169 100% .

SETD8 1091 88% .

SETDB1 4051 100% .

SETDB2 2287 100% .

SETMAR 2145 67% .

SETX 8130 100% Amyotrophic Lateral Sclerosis

SETX 8130 100% Ataxia with Oculomotor Apraxia 2

SETX 8130 100% SETX‐Related Amyotrophic Lateral Sclerosis

SEZ6 3085 98% .





SEZ6L 3143 97% .

SEZ6L2 2844 100% .

SF1 2673 83% .

SF3A1 2446 98% .

SF3A2 1427 81% .

SF3A3 1574 98% .

SF3B1 4089 100% .

SF3B14 394 100% .

SF3B2 2782 100% .

SF3B3 3754 100% .

SF3B4 1299 97% .

SF3B5 265 100% .

SFI1 3857 98% .

SFMBT1 2681 100% .

SFMBT2 2801 99% .

SFN 751 100% .

SFPQ 2164 75% .

SFR1 953 98% .

SFRP1 957 99%SFRP1 957 99% .

SFRP2 900 100% .

SFRP4 1131 100% .

SFRP5 966 97% .

SFSWAP 2928 100% .

SFT2D1 512 93% .

SFT2D2 515 87% .

SFT2D3 652 4% .

SFTA2 264 94% .

SFTA3 301 100% .

SFTPA1 815 100% .

SFTPA2 763 100% .

SFTPB 1186 94% Pulmonary Surfactant Metabolism Dysfunction

SFTPB 1186 94% SFTPB‐Related Pulmonary Surfactant Metabolism Dysfunction





SFTPC 614 100% Familial Pulmonary Fibrosis

SFTPC 614 100% Pulmonary Surfactant Metabolism Dysfunction

SFTPC 614 100% SFTPC‐Related Familial Pulmonary Fibrosis

SFTPC 614 100% SFTPC‐Related Pulmonary Surfactant Metabolism Dysfunction

SFTPC 614 100% Surfactant Protein C Deficiency

SFTPD 1159 100% .

SFXN1 1009 100% .

SFXN2 1013 100% .

SFXN3 1085 99% .

SFXN4 1358 100% .

SFXN5 1079 97% .

SGCA 1260 97% Alpha‐Sarcoglycanopathy

SGCA 1260 97% Limb‐Girdle Muscular Dystrophies, Autosomal Recessive

SGCA 1260 97% Sarcoglycanopathies

SGCB 981 96% Beta‐Sarcoglycanopathy

SGCB 981 96% Limb‐Girdle Muscular Dystrophies, Autosomal Recessive

SGCB 981 96% Sarcoglycanopathies

SGCD 977 100% Delta‐Sarcoglycanopathy

SGCD 977 100% Dilated CardiomyopathySGCD 977 100% Dilated Cardiomyopathy

SGCD 977 100% Limb‐Girdle Muscular Dystrophies, Autosomal Recessive

SGCD 977 100% Sarcoglycanopathies

SGCD 977 100% SGCD‐Related Dilated Cardiomyopathy

SGCE 1510 95% Myoclonus‐Dystonia

SGCG 904 100% Gamma‐Sarcoglycanopathy

SGCG 904 100% Limb‐Girdle Muscular Dystrophies, Autosomal Recessive

SGCG 904 100% Sarcoglycanopathies

SGCZ 971 99% .

SGIP1 2672 100% .

SGK1 2049 98% .

SGK110 1095 57% .

SGK196 1061 100% .

SGK2 1332 95% .





SGK223 4229 99% .

SGK3 1555 100% .

SGK494 864 100% .

SGMS1 1280 100% .

SGMS2 1118 100% .

SGOL1 1738 100% .

SGOL2 3872 100% .

SGPL1 1816 100% .

SGPP1 1338 86% .

SGPP2 1220 82% .

SGSH 1541 94% Mucopolysaccharidosis Type IIIA

SGSM1 3551 98% .

SGSM2 3331 100% .

SGSM3 2466 99% .

SGTA 982 93% .

SGTB 955 100% .

SH2B1 2460 100% .

SH2B2 1669 76% .

SH2B3 1756 79%SH2B3 1756 79% .

SH2D1A 403 100% Lymphoproliferative Disease, X‐Linked

SH2D1A 403 100% SH2D1A‐Related Lymphoproliferative Disease, X‐Linked

SH2D1B 415 100% .

SH2D2A 1232 88% .

SH2D3A 1850 87% .

SH2D3C 3079 95% .

SH2D4A 1402 100% .

SH2D4B 1158 91% .

SH2D5 1351 97% .

SH2D6 544 95% .

SH2D7 1380 100% .

SH3BGR 744 100% .

SH3BGRL 361 100% .





SH3BGRL2 340 99% .

SH3BGRL3 657 58% .

SH3BP1 2178 91% .

SH3BP2 1823 93% Cherubism

SH3BP4 2908 98% .

SH3BP5 1404 94% .

SH3BP5L 1260 99% .

SH3D19 2433 100% .

SH3D21 2337 90% .

SH3GL1 1147 100% .

SH3GL2 1095 100% .

SH3GL3 1080 100% .

SH3GLB1 1205 100% .

SH3GLB2 1232 88% .

SH3KBP1 2373 100% .

SH3PXD2A 3374 97% .

SH3PXD2B 2788 100% .

SH3RF1 2711 100% .

SH3RF2 2226 100%SH3RF2 2226 100% .

SH3RF3 2689 73% .

SH3TC1 4105 93% .

SH3TC2 4110 100% Charcot‐Marie‐Tooth Neuropathy Type 4

SH3TC2 4110 100% Charcot‐Marie‐Tooth Neuropathy Type 4C

SH3YL1 1113 100% .

SHANK1 6703 79% .

SHANK2 5601 92% .

SHANK3 5336 66% Autism Spectrum Disorders

SHARPIN 1196 83% .

SHB 1554 77% .

SHBG 1241 100% .

SHC1 1804 100% .

SHC2 1797 73% .





SHC3 1833 87% .

SHC4 1941 100% .

SHCBP1 2071 100% .

SHCBP1L 2219 92% .

SHD 1047 100% .

SHE 1512 89% .

SHF 1326 100% .

SHFM1 225 100% .

SHH 1401 81% Holoprosencephaly

SHH 1401 81% SHH‐Related Holoprosencephaly

SHISA2 896 67% .

SHISA3 725 91% .

SHISA4 614 88% .

SHISA5 857 79% .

SHISA6 1680 92% .

SHISA7 1633 20% .

SHISA8 496 0% .

SHISA9 1525 79% .

SHKBP1 2196 98%SHKBP1 2196 98% .

SHMT1 1713 100% .

SHMT2 1591 100% .

SHOC2 1781 100% Noonan‐Like Syndrome with Loose Anagen Hair

SHOX 954 71% Langer Mesomelic Dwarfism

SHOX 954 71% Leri‐Weill Dyschondrosteosis

SHOX 954 71% SHOX‐Related Haploinsufficiency Disorders

SHOX 954 71% SHOX‐Related Short Stature

SHOX2 1096 88% .

SHPK 1465 100% .

SHPRH 5212 100% .

SHQ1 1778 96% .

SHROOM1 2587 86% .

SHROOM2 4891 93% .





SHROOM3 6035 97% .

SHROOM4 4518 100% .

SI 5688 100% .

SIAE 1777 100% .

SIAH1 996 100% .

SIAH2 983 95% .

SIAH3 818 100% .

SIDT1 2584 98% .

SIDT2 2705 100% .

SIGIRR 1554 90% .

SIGLEC1 5319 98% .

SIGLEC10 2148 100% .

SIGLEC11 2141 96% .

SIGLEC12 1849 100% .

SIGLEC14 1219 81% .

SIGLEC15 1011 67% .

SIGLEC5 1692 87% .

SIGLEC6 1427 100% .

SIGLEC7 1432 100%SIGLEC7 1432 100% .

SIGLEC8 1579 100% .

SIGLEC9 1421 100% .

SIGMAR1 688 89% .

SIK1 2404 93% .

SIK2 2841 95% .

SIK3 4115 97% .

SIKE1 656 100% .

SIL1 1432 98% Marinesco‐Sjogren Syndrome

SIM1 2345 100% Prader‐Willi‐like Syndrome Associated with Chromosome 6

SIM2 2185 79% .

SIN3A 3902 100% .

SIN3B 3569 96% .

SIPA1 3189 80% .





SIPA1L1 5499 100% .

SIPA1L2 5253 100% .

SIPA1L3 5426 97% .

SIRPA 1559 95% .

SIRPB1 2354 77% .

SIRPB2 1108 100% .

SIRPD 617 100% .

SIRPG 1184 98% .

SIRT1 2280 83% .

SIRT2 1385 100% .

SIRT3 1240 89% .

SIRT4 957 100% .

SIRT5 1012 100% .

SIRT6 1102 76% .

SIRT7 1243 86% .

SIT1 611 99% .

SIVA1 544 99% .

SIX1 863 100% Branchiootorenal Spectrum Disorders

SIX1 863 100% DFNA23 Nonsyndromic Hearing Loss and DeafnessSIX1 863 100% DFNA23 Nonsyndromic Hearing Loss and Deafness

SIX1 863 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

SIX1 863 100% SIX1‐Related Branchiootorenal Spectrum Disorders

SIX2 884 100% .

SIX3 1007 100% Anophthalmia/Microphthalmia

SIX3 1007 100% Holoprosencephaly

SIX3 1007 100% SIX3‐Related Holoprosencephaly

SIX4 2358 96% .

SIX5 2232 67% Branchiootorenal Spectrum Disorders

SIX5 2232 67% SIX5‐Related Branchiootorenal Spectrum Disorders

SIX6 926 100% Anophthalmia/Microphthalmia

SIX6 926 100% SIX6‐Related Eye Disorders

SKA1 792 100% .

SKA2 514 100% .





SKA3 1322 97% .

SKAP1 1128 97% .

SKAP2 1128 100% .

SKI 2215 81% .

SKIL 2079 100% .

SKIV2L 4005 97% .

SKIV2L2 3272 100% .

SKOR1 2934 78% .

SKP1 539 100% .

SKP2 1491 100% .

SLA 994 91% .

SLA2 814 100% .

SLAIN1 1937 64% .

SLAIN2 1782 81% .

SLAMF1 1036 100% .

SLAMF6 1031 100% .

SLAMF7 1075 100% .

SLAMF8 878 100% .

SLAMF9 886 100%SLAMF9 886 100% .

SLBP 894 76% .

SLC10A1 1070 100% .

SLC10A2 1071 100% .

SLC10A3 1580 98% .

SLC10A4 1326 75% .

SLC10A5 1321 100% .

SLC10A6 1158 100% .

SLC10A7 1116 100% .

SLC11A1 1713 100% .

SLC11A2 1920 100% Hypochromic Microcytic Anemia with Iron Overload

SLC12A1 3504 100% Antenatal Bartter Syndrome Type 1

SLC12A2 3747 92% .

SLC12A3 3197 98% Gitelman Syndrome





SLC12A4 3356 100% .

SLC12A5 3584 95% .

SLC12A6 3675 100% Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum

SLC12A7 3356 96% .

SLC12A8 2345 100% .

SLC12A9 2797 96% .

SLC13A1 1848 100% .

SLC13A2 1974 100% .

SLC13A3 1861 94% .

SLC13A4 1945 95% .

SLC13A5 1755 100% .

SLC14A1 1374 89% .

SLC14A2 2839 100% .

SLC15A1 2660 100% .

SLC15A2 2288 100% .

SLC15A3 1778 72% .

SLC15A4 1937 74% .

SLC15A5 1776 79% .

SLC16A1 1519 100%SLC16A1 1519 100% .

SLC16A10 1593 94% .

SLC16A11 1432 89% .

SLC16A12 1485 100% .

SLC16A13 1297 100% .

SLC16A14 1637 100% .

SLC16A2 1866 95% MCT8 (SLC16A2)‐Specific Thyroid Hormone Cell Transporter Deficiency

SLC16A3 1414 94% .

SLC16A4 1516 100% .

SLC16A5 1586 100% .

SLC16A6 1592 100% .

SLC16A7 1453 100% .

SLC16A8 1531 53% .

SLC16A9 1550 100% .





SLC17A1 1448 100% .

SLC17A2 1369 100% .

SLC17A3 1541 100% .

SLC17A4 1622 100% .

SLC17A5 1532 99% Free Sialic Acid Storage Disorders

SLC17A5 1532 99% Salla Disease

SLC17A6 1797 100% .

SLC17A7 1731 100% .

SLC17A8 1818 100% DFNA25 Nonsyndromic Hearing Loss and Deafness

SLC17A8 1818 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

SLC17A9 1363 95% .

SLC18A1 1638 99% .

SLC18A2 1605 100% .

SLC18A3 1603 100% .

SLC19A1 1978 97% .

SLC19A2 1518 89% Thiamine‐Responsive Megaloblastic Anemia Syndrome

SLC19A3 1515 100% Basal Ganglia Disease, Biotin‐Responsive

SLC1A1 1623 100% Dicarboxylicaminoaciduria

SLC1A2 1769 100%SLC1A2 1769 100% .

SLC1A3 1666 100% Episodic Ataxia Type 6

SLC1A4 1631 97% .

SLC1A5 1665 92% .

SLC1A6 1731 100% .

SLC1A7 1727 100% .

SLC20A1 2174 100% .

SLC20A2 1999 100% .

SLC22A1 1709 100% .

SLC22A10 1666 100% .

SLC22A11 1693 94% .

SLC22A12 1702 100% Renal Hypouricemia 1

SLC22A13 1696 100% .

SLC22A14 1825 100% .





SLC22A15 1692 100% .

SLC22A16 1766 97% .

SLC22A17 1653 85% .

SLC22A18 1364 79% .

SLC22A18AS 2 0% .

SLC22A2 1716 100% .

SLC22A20 1074 100% .

SLC22A23 2389 82% .

SLC22A24 1835 65% .

SLC22A25 1680 100% .

SLC22A3 1718 89% .

SLC22A31 1088 66% .

SLC22A4 1696 100% .

SLC22A5 1870 100% Carnitine Deficiency, Systemic

SLC22A6 1732 100% .

SLC22A7 2052 100% .

SLC22A8 1904 96% .

SLC22A9 1702 100% .

SLC23A1 1911 99%SLC23A1 1911 99% .

SLC23A2 2013 100% .

SLC23A3 1905 99% .

SLC24A1 3337 100% .

SLC24A2 2026 100% .

SLC24A3 2003 95% .

SLC24A4 1886 100% .

SLC24A5 1539 100% .

SLC24A6 1815 97% .

SLC25A1 972 82% .

SLC25A10 935 89% .

SLC25A11 977 100% .

SLC25A12 2109 100% Global Cerebral Hypomyelination

SLC25A13 2103 99% Citrin Deficiency





SLC25A13 2103 99% Citrullinemia Type II

SLC25A14 1019 100% .

SLC25A15 930 100% Hyperornithinemia‐Hyperammonemia‐Homocitrullinuria Syndrome

SLC25A16 1035 97% .

SLC25A17 1048 100% .

SLC25A18 984 100% .

SLC25A19 987 100% Amish Lethal Microcephaly

SLC25A2 910 100% .

SLC25A20 942 99% Carnitine‐Acylcarnitine Translocase Deficiency

SLC25A21 941 98% .

SLC25A22 1008 98% Epileptic Encephalopathy, Early Infantile, 3

SLC25A23 1447 100% .

SLC25A24 1604 97% .

SLC25A25 1997 99% .

SLC25A26 865 77% .

SLC25A27 1103 100% .

SLC25A28 1111 88% .

SLC25A29 928 88% .

SLC25A3 1243 100% Mitochondrial Phosphate Carrier DeficiencySLC25A3 1243 100% Mitochondrial Phosphate Carrier Deficiency

SLC25A30 912 100% .

SLC25A31 972 100% .

SLC25A32 976 100% .

SLC25A33 994 94% .

SLC25A34 935 94% .

SLC25A35 953 100% .

SLC25A36 978 95% .

SLC25A37 1062 100% .

SLC25A38 943 100% Congenital Sideroblastic Anemia

SLC25A38 943 100% Pyridoxine‐Refractory Sideroblastic Anemia, Autosomal Recessive

SLC25A39 1124 95% .

SLC25A4 913 88% Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 2

SLC25A40 1057 100% .





SLC25A41 1141 100% .

SLC25A42 985 96% .

SLC25A43 1046 73% .

SLC25A44 957 100% .

SLC25A45 1104 100% .

SLC25A46 1310 92% .

SLC25A47 951 100% .

SLC25A48 494 99% .

SLC25A5 913 100% .

SLC25A6 917 100% .

SLC26A1 2217 92% .

SLC26A10 1826 98% .

SLC26A11 1885 97% .

SLC26A2 2228 100% Achondrogenesis Type 1B

SLC26A2 2228 100% Atelosteogenesis Type II

SLC26A2 2228 100% Diastrophic Dysplasia

SLC26A2 2228 100% Multiple Epiphyseal Dysplasia, Recessive

SLC26A2 2228 100% Sulfate Transporter‐Related Osteochondrodysplasia

SLC26A3 2375 100% Familial Chloride DiarrheaSLC26A3 2375 100% Familial Chloride Diarrhea

SLC26A4 2423 95% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

SLC26A4 2423 95% Pendred Syndrome/DFNB4

SLC26A5 2354 100% DFNB61 Nonsyndromic Hearing Loss and Deafness

SLC26A6 2489 99% .

SLC26A7 2104 100% .

SLC26A8 3066 100% .

SLC26A9 2752 100% .

SLC27A1 2046 95% .

SLC27A2 1903 100% .

SLC27A3 2597 99% .

SLC27A4 1990 100% .

SLC27A5 2113 97% .

SLC27A6 1900 100% .





SLC28A1 2089 97% .

SLC28A2 2045 100% .

SLC28A3 2148 100% .

SLC29A1 1470 100% .

SLC29A2 1419 96% .

SLC29A3 1452 100% Hyperpigmentation, Cutaneous, with Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, Hearing Loss, and Hypogonadism

SLC29A4 1633 100% .

SLC2A1 1770 99% Dystonia 18

SLC2A1 1770 99% Glucose Transporter Type 1 Deficiency Syndrome

SLC2A10 1646 100% Arterial Tortuosity Syndrome

SLC2A11 2082 99% .

SLC2A12 1874 100% .

SLC2A13 2027 90% .

SLC2A14 1603 94% .

SLC2A2 1619 100% Fanconi‐Bickel Syndrome

SLC2A3 1531 100% .

SLC2A4 1635 100% .

SLC2A4RG 1196 75% .

SLC2A5 1718 98%SLC2A5 1718 98% .

SLC2A6 1646 86% .

SLC2A7 1587 94% .

SLC2A8 1474 76% .

SLC2A9 1738 92% Renal Hypouricemia 2

SLC30A1 1532 100% .

SLC30A10 1474 92% .

SLC30A2 1151 100% .

SLC30A3 1199 99% .

SLC30A4 1318 100% .

SLC30A5 2537 97% .

SLC30A6 1566 92% .

SLC30A7 1175 100% .

SLC30A8 1142 100% .





SLC30A9 1779 100% .

SLC31A1 589 100% .

SLC31A2 593 99% .

SLC32A1 1586 100% .

SLC33A1 1674 100% Spastic Paraplegia 42

SLC34A1 2059 96% Hypophosphatemic Nephrolithiasis/Osteoporosis, 1

SLC34A2 2121 100% .

SLC34A3 1848 88% Hereditary Hypophosphatemic Rickets with Hypercalciuria

SLC35A1 1103 98% Congenital Disorders of Glycosylation

SLC35A1 1103 98% SLC35A1‐CDG (CDG‐IIf)

SLC35A2 1546 93% .

SLC35A3 1024 100% .

SLC35A4 1080 100% .

SLC35A5 1299 100% .

SLC35B1 1181 100% .

SLC35B2 1315 99% .

SLC35B3 1286 100% .

SLC35B4 1036 92% .

SLC35C1 1103 100% Congenital Disorders of GlycosylationSLC35C1 1103 100% Congenital Disorders of Glycosylation

SLC35C1 1103 100% SLC35C1‐CDG (CDG‐IIc)

SLC35C2 1134 100% .

SLC35D1 1116 100% .

SLC35D2 1066 86% .

SLC35D3 1259 89% .

SLC35E1 1257 86% .

SLC35E2 834 70% .

SLC35E2B 1250 67% .

SLC35E3 1086 100% .

SLC35E4 1061 95% .

SLC35F1 1259 100% .

SLC35F2 1157 99% .

SLC35F3 1505 98% .





SLC35F4 1384 100% .

SLC35F5 1647 98% .

SLC35G1 1110 84% .

SLC35G3 1021 100% .

SLC35G5 1021 100% .

SLC35G6 1025 100% .

SLC36A1 1471 100% .

SLC36A2 1492 100% .

SLC36A3 1631 92% .

SLC36A4 1559 100% .

SLC37A1 1678 100% .

SLC37A2 1610 100% .

SLC37A3 1725 100% .

SLC37A4 1578 100% Glycogen Storage Disease Type I

SLC37A4 1578 100% Glycogen Storage Disease Type Ib

SLC38A1 1645 100% .

SLC38A10 3702 99% .

SLC38A11 1261 100% .

SLC38A2 1581 100%SLC38A2 1581 100% .

SLC38A3 15 0% .

SLC38A4 1704 100% .

SLC38A5 1679 95% .

SLC38A6 1724 83% .

SLC38A7 1429 96% .

SLC38A8 1348 100% .

SLC38A9 1789 100% .

SLC39A1 987 100% .

SLC39A10 2532 100% .

SLC39A11 1044 100% .

SLC39A12 2124 100% .

SLC39A13 1152 100% Spondylocheirodysplasia, Ehlers‐Danlos Syndrome‐Like

SLC39A14 1803 93% .





SLC39A2 946 100% .

SLC39A3 1061 100% .

SLC39A4 2109 98% .

SLC39A5 1681 100% .

SLC39A6 2316 100% .

SLC39A7 1476 98% .

SLC39A8 1493 82% .

SLC39A9 953 100% .

SLC3A1 2258 100% Cystinuria

SLC3A2 2041 83% .

SLC40A1 1748 100% SLC40A1‐Related Hereditary Hemochromatosis

SLC41A1 1582 100% .

SLC41A2 1762 100% .

SLC41A3 1950 100% .

SLC43A1 1736 100% .

SLC43A2 2015 88% .

SLC43A3 1563 100% .

SLC44A1 2038 98% .

SLC44A2 2210 98%SLC44A2 2210 98% .

SLC44A3 2132 93% .

SLC44A4 2349 94% .

SLC44A5 2363 100% .

SLC45A1 2303 100% .

SLC45A2 1701 100% Oculocutaneous Albinism Type 4

SLC45A3 1678 100% .

SLC45A4 2436 100% .

SLC46A1 1401 100% Hereditary Folate Malabsorption

SLC46A2 1444 100% .

SLC46A3 1420 100% .

SLC47A1 1781 93% .

SLC47A2 1877 100% .

SLC48A1 1117 84% .





SLC4A1 2816 99% Hemolytic Anemia due to Band 3 Montefiore

SLC4A1 2816 99% Renal Tubular Acidosis, Distal, Autosomal Dominant

SLC4A1 2816 99% Renal Tubular Acidosis, Distal, Autosomal Recessive

SLC4A1 2816 99% Spherocytosis, Type 4

SLC4A10 3462 100% .

SLC4A11 2975 98% .

SLC4A1AP 2447 100% .

SLC4A2 3855 96% .

SLC4A3 3893 99% .

SLC4A4 3773 99% Proximal Renal Tubular Acidosis with Ocular Abnormalities

SLC4A5 3534 100% .

SLC4A7 3749 100% .

SLC4A8 3436 99% .

SLC4A9 3036 97% .

SLC50A1 690 100% .

SLC5A1 2055 100% Glucose‐Galactose Malabsorption

SLC5A10 1899 100% .

SLC5A11 2088 100% .

SLC5A12 1955 100%SLC5A12 1955 100% .

SLC5A2 2149 100% Renal Glucosuria

SLC5A3 2161 100% .

SLC5A4 2040 100% .

SLC5A5 1992 98% Thyroid Hormonogenesis Defect I

SLC5A6 1968 100% .

SLC5A7 1775 100% .

SLC5A8 1893 100% .

SLC5A9 2181 100% .

SLC6A1 1856 100% .

SLC6A11 1959 99% .

SLC6A12 1901 99% .

SLC6A13 1957 100% .

SLC6A14 1985 97% .





SLC6A15 2351 100% .

SLC6A16 2294 100% .

SLC6A17 2228 100% .

SLC6A18 1939 100% .

SLC6A19 2051 100% Hartnup Disease

SLC6A2 2062 100% .

SLC6A20 1823 99% .

SLC6A3 1919 95% Parkinsonism‐Dystonia, Infantile

SLC6A4 2068 100% SLC6A4‐Related Behavior Disorders

SLC6A5 2458 100% Hyperekplexia

SLC6A5 2458 100% SLC6A5‐Related Hyperekplexia

SLC6A6 1919 100% .

SLC6A7 1967 98% .

SLC6A8 3126 99% Creatine Deficiency Syndromes

SLC6A8 3126 99% SLC6A8‐Related Creatine Transporter Deficiency

SLC6A9 2211 100% .

SLC7A1 1934 100% .

SLC7A10 2019 98% .

SLC7A11 1554 100%SLC7A11 1554 100% .

SLC7A13 1429 100% .

SLC7A14 2344 100% .

SLC7A2 2286 100% .

SLC7A3 1904 99% .

SLC7A4 1924 100% .

SLC7A5 1564 99% .

SLC7A6 1584 100% .

SLC7A6OS 950 100% .

SLC7A7 1614 100% Lysinuric Protein Intolerance

SLC7A8 1652 100% .

SLC7A9 1512 100% Cystinuria

SLC8A1 3070 100% .

SLC8A2 3030 89% .





SLC8A3 2923 100% .

SLC9A1 2680 99% .

SLC9A10 3646 100% .

SLC9A11 3483 100% .

SLC9A2 2487 100% .

SLC9A3 2573 89% .

SLC9A3R1 1184 90% .

SLC9A3R2 1149 68% .

SLC9A4 2445 100% .

SLC9A5 2837 95% .

SLC9A6 2170 100% SLC9A6‐Related Syndromic Mental Retardation

SLC9A7 2246 98% .

SLC9A8 1858 98% .

SLC9A9 2015 100% .

SLC9B1 1829 100% .

SLC9B2 1658 100% .

SLCO1A2 2140 100% .

SLCO1B1 2132 100% .

SLCO1B3 2165 100%SLCO1B3 2165 100% .

SLCO1B7 2038 100% .

SLCO1C1 2298 100% .

SLCO2A1 1988 98% .

SLCO2B1 2186 100% .

SLCO3A1 2260 94% .

SLCO4A1 2334 98% .

SLCO4C1 2227 100% .

SLCO5A1 2583 100% .

SLCO6A1 2212 100% .

SLFN11 2722 98% .

SLFN12 1749 100% .

SLFN12L 1878 94% .

SLFN13 2710 100% .





SLFN14 2755 0% .

SLFN5 2692 100% .

SLFNL1 1240 98% .

SLIRP 346 100% .

SLIT1 4783 96% .

SLIT2 4848 100% .

SLIT3 4718 95% .

SLITRK1 2095 100% Tourette Syndrome

SLITRK2 2542 100% .

SLITRK3 2938 100% .

SLITRK4 2518 100% .

SLITRK5 2881 100% .

SLITRK6 2530 100% .

SLK 3784 100% .

SLMAP 2685 100% .

SLMO1 543 87% .

SLMO2 609 100% .

SLN 100 100% .

SLPI 415 100%SLPI 415 100% .

SLTM 3189 100% .

SLU7 1821 100% .

SLURP1 324 100% Mal de Meleda

SLX1A 1704 27% .

SLX1B 1704 27% .

SLX4 5561 99% Fanconi Anemia

SLX4 5561 99% SLX4‐Related Fanconi Anemia

SMAD1 1422 100% .

SMAD2 1444 100% .

SMAD3 1392 94% .

SMAD4 1703 100% Hereditary Hemorrhagic Telangiectasia

SMAD4 1703 100% Juvenile Polyposis Syndrome

SMAD4 1703 100% Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome





SMAD4 1703 100% SMAD4‐Related Hereditary Hemorrhagic Telangiectasia

SMAD4 1703 100% SMAD4‐Related Juvenile Polyposis

SMAD5 1480 100% .

SMAD6 1545 58% .

SMAD7 1297 80% .

SMAD9 1428 100% .

SMAGP 331 100% .

SMAP1 1477 100% .

SMAP2 1348 100% .

SMARCA1 3261 99% .

SMARCA2 4925 98% .

SMARCA4 5189 98% .

SMARCA5 3255 96% .

SMARCAD1 3179 100% .

SMARCAL1 2929 100% Schimke Immunoosseous Dysplasia

SMARCB1 1248 99% Familial Posterior Fossa Brain Tumor of Infancy

SMARCB1 1248 99% Schwannomatosis

SMARCC1 3430 100% .

SMARCC2 3977 100%SMARCC2 3977 100% .

SMARCD1 1600 89% .

SMARCD2 1648 87% .

SMARCD3 1597 86% .

SMARCE1 1276 100% .

SMC1A 3803 100% Cornelia de Lange Syndrome

SMC1A 3803 100% SMC1A‐Related Cornelia de Lange Syndrome

SMC1B 3830 100% .

SMC2 3690 100% .

SMC3 3770 100% SMC3‐Related Cornelia de Lange Syndrome

SMC4 3959 98% .

SMC5 3406 100% .

SMC6 3380 100% .

SMCHD1 6210 99% .





SMCP 355 100% .

SMCR7 1596 100% .

SMCR7L 1408 100% .

SMCR8 2826 100% .

SMCR9 3 0% .

SMEK1 2562 100% .

SMEK2 2618 100% .

SMG1 11241 99% .

SMG5 3139 100% .

SMG6 4336 97% .

SMG7 3889 99% .

SMG8 2992 100% .

SMG9 1615 100% .

SMN1 1834 6% Spinal Muscular Atrophy

SMN1 1834 6% Spinal Muscular Atrophy (SMN1)

SMN2 1854 6% Spinal Muscular Atrophy

SMN2 1854 6% Spinal Muscular Atrophy (SMN2)

SMNDC1 737 100% .

SMO 2412 85%SMO 2412 85% .

SMOC1 1356 99% .

SMOC2 1430 87% .

SMOX 1786 98% .

SMPD1 1960 100% Acid Sphingomyelinase Deficiency

SMPD2 1458 100% .

SMPD3 1996 99% .

SMPD4 2819 99% .

SMPDL3A 1394 92% .

SMPDL3B 1517 100% .

SMPX 279 100% .

SMR3A 413 100% .

SMR3B 248 100% .

SMS 1145 95% Mental Retardation, X‐Linked, Snyder‐Robinson Type





SMTN 3828 93% .

SMTNL1 1515 100% .

SMTNL2 1418 65% .

SMU1 1590 100% .

SMUG1 1050 100% .

SMURF1 2357 96% .

SMURF2 2323 98% .

SMYD1 1517 100% .

SMYD2 1350 99% .

SMYD3 1335 99% .

SMYD4 2455 99% .

SMYD5 1309 100% .

SNAI1 807 100% .

SNAI2 819 100% Piebald Trait, SNAI2‐Related

SNAI3 891 100% .

SNAP23 664 100% .

SNAP25 771 100% .

SNAP29 797 100% .

SNAP47 1813 94%SNAP47 1813 94% .

SNAP91 2832 100% .

SNAPC1 1147 100% .

SNAPC2 1025 92% .

SNAPC3 1277 94% .

SNAPC4 4498 100% .

SNAPC5 309 100% .

SNAPIN 427 100% .

SNCA 485 100% Parkinson Disease

SNCA 485 100% SNCA‐Related Parkinson Disease

SNCAIP 2962 100% Parkinson Disease

SNCB 425 100% .

SNCG 456 100% .

SND1 2832 99% .





SNED1 4553 93% .

SNF8 813 100% .

SNIP1 1207 100% .

SNN 271 100% .

SNPH 1633 95% .

SNRK 2318 100% .

SNRNP200 6591 100% SNRNP200‐Related Retinitis Pigmentosa

SNRNP25 419 100% .

SNRNP27 566 100% .

SNRNP35 764 100% .

SNRNP40 1199 100% .

SNRNP48 1056 97% .

SNRNP70 1350 80% .

SNRPA 873 100% .

SNRPA1 873 96% .

SNRPB 907 100% .

SNRPB2 702 100% .

SNRPC 575 100% .

SNRPD1 376 100%SNRPD1 376 100% .

SNRPD2 369 100% .

SNRPD3 393 100% .

SNRPE 299 100% .

SNRPF 277 100% .

SNRPG 247 99% .

SNRPN 751 100% Autism Spectrum Disorders

SNRPN 751 100% Autistic Disorder

SNTA1 1550 81% Long QT Syndrome 12

SNTB1 1645 99% .

SNTB2 1651 77% .

SNTG1 1622 100% .

SNTG2 1688 95% .

SNTN 460 100% .





SNUPN 1120 100% .

SNURF 228 100% .

SNW1 1765 100% .

SNX1 1630 95% .

SNX10 630 100% .

SNX11 837 100% .

SNX12 505 100% .

SNX13 3019 100% .

SNX14 2975 100% .

SNX15 1061 100% .

SNX16 1063 100% .

SNX17 1497 96% .

SNX18 2149 86% .

SNX19 3023 100% .

SNX2 1622 99% .

SNX20 1106 97% .

SNX21 1168 98% .

SNX22 759 78% .

SNX24 576 100%SNX24 576 100% .

SNX25 2599 100% .

SNX27 1667 96% .

SNX29 2499 100% .

SNX3 505 100% .

SNX30 1350 90% .

SNX31 1379 99% .

SNX32 1379 97% .

SNX33 1733 100% .

SNX4 1409 95% .

SNX5 1267 96% .

SNX6 1313 93% .

SNX7 1392 87% .

SNX8 1442 87% .





SNX9 1860 99% .

SOAT1 1713 100% .

SOAT2 1629 95% .

SOBP 2646 88% .

SOCS1 690 71% .

SOCS2 605 88% .

SOCS3 682 95% .

SOCS4 1327 100% .

SOCS5 1615 100% .

SOCS6 1612 100% .

SOCS7 1782 72% .

SOD1 485 100% Amyotrophic Lateral Sclerosis

SOD1 485 100% SOD1‐Related Amyotrophic Lateral Sclerosis

SOD2 949 91% .

SOD3 727 73% .

SOHLH1 1237 99% .

SOHLH2 1322 100% .

SOLH 3305 84% .

SON 7821 100%SON 7821 100% .

SORBS1 4200 97% .

SORBS2 4679 97% .

SORBS3 2188 94% .

SORCS1 3845 95% .

SORCS2 3633 90% .

SORCS3 3777 87% .

SORD 1110 93% .

SORL1 6837 98% .

SORT1 2576 88% .

SOS1 4094 100% Noonan Syndrome

SOS1 4094 100% SOS1‐Related Noonan Syndrome

SOS2 4091 100% .

SOST 650 98% SOST‐Related Sclerosing Bone Dysplasias





SOSTDC1 629 100% .

SOWAHA 1654 39% .

SOWAHB 2386 92% .

SOWAHC 1582 54% .

SOWAHD 952 67% .

SOX1 1180 44% .

SOX10 1413 96% Waardenburg Syndrome Type II

SOX10 1413 96% Waardenburg Syndrome Type IIE

SOX10 1413 96% Waardenburg Syndrome Type IVC

SOX11 1330 68% .

SOX12 952 68% .

SOX13 1969 100% .

SOX14 727 100% .

SOX15 765 89% .

SOX17 1253 84% .

SOX18 1163 48% Hypotrichosis‐Lymphedema‐Telangiectasia Syndrome

SOX2 958 100% Anophthalmia/Microphthalmia

SOX2 958 100% SOX2‐Related Eye Disorders

SOX21 835 54%SOX21 835 54% .

SOX3 1345 78% Mental Retardation, X‐Linked, with Growth Hormone Deficiency

SOX30 2282 93% .

SOX4 1429 83% .

SOX5 2362 100% .

SOX6 2633 100% .

SOX7 1175 100% .

SOX8 1353 87% .

SOX9 1542 100% Campomelic Dysplasia

SP1 2382 100% .

SP100 3359 100% .

SP110 2279 100% Hepatic Veno‐occlusive Disease with Immunodeficiency

SP140 2829 98% .

SP140L 1837 100% .





SP2 1870 99% .

SP3 2374 94% .

SP4 2421 100% .

SP5 1205 70% .

SP6 1135 98% .

SP7 1304 98% .

SP8 1535 73% .

SP9 1463 76% .

SPA17 472 100% .

SPACA1 913 96% .

SPACA3 668 100% .

SPACA4 379 100% .

SPACA5 992 22% .

SPACA5B 992 22% .

SPACA7 616 100% .

SPAG1 2853 88% .

SPAG11A 453 73% .

SPAG11B 1078 55% .

SPAG16 2005 99%SPAG16 2005 99% .

SPAG17 6875 99% .

SPAG4 1389 98% .

SPAG5 3678 100% .

SPAG6 1804 99% .

SPAG7 712 100% .

SPAG8 1779 100% .

SPAG9 4343 100% .

SPAM1 1597 97% .

SPANXA1 604 0% .

SPANXA2 604 0% .

SPANXB1 640 0% .

SPANXB2 640 0% .

SPANXC 304 95% .





SPANXD 302 100% .

SPANXE 302 100% .

SPANXF1 640 0% .

SPANXN1 227 100% .

SPANXN2 551 96% .

SPANXN3 434 100% .

SPANXN4 308 100% .

SPANXN5 227 100% .

SPARC 948 100% .

SPARCL1 2041 100% .

SPAST 1919 99% Spastic Paraplegia 4

SPATA12 577 100% .

SPATA13 4213 100% .

SPATA16 1750 100% .

SPATA17 1126 100% .

SPATA18 1719 100% .

SPATA19 528 100% .

SPATA2 1571 100% .

SPATA20 2892 97%SPATA20 2892 97% .

SPATA21 1549 100% .

SPATA22 1124 100% .

SPATA24 1087 100% .

SPATA25 692 100% .

SPATA2L 1283 89% .

SPATA3 601 100% .

SPATA4 942 100% .

SPATA5 2746 100% .

SPATA5L1 2384 93% .

SPATA6 1519 100% .

SPATA7 1918 100% Leber Congenital Amaurosis

SPATA7 1918 100% SPATA7‐Related Leber Congenital Amaurosis

SPATA8 330 100% .





SPATA9 785 100% .

SPATC1 1796 100% .

SPATS1 935 100% .

SPATS2 1687 100% .

SPATS2L 1743 100% .

SPC24 618 99% .

SPC25 699 100% .

SPCS1 526 89% .

SPCS2 701 84% .

SPCS3 565 100% .

SPDEF 1028 100% .

SPDYA 980 100% .

SPDYC 910 100% .

SPDYE1 1035 100% .

SPDYE2 2528 21% .

SPDYE2L 2528 21% .

SPDYE3 1690 81% .

SPDYE4 738 100% .

SPDYE5 7 0%SPDYE5 7 0% .

SPDYE6 7 0% .

SPECC1 3337 99% .

SPECC1L 3450 100% .

SPEF1 810 100% .

SPEF2 5646 100% .

SPEG 9980 81% .

SPEM1 994 100% .

SPEN 11055 100% .

SPERT 1359 92% .

SPESP1 1061 100% .

SPG11 7527 100% Spastic Paraplegia 11

SPG20 2033 100% Troyer Syndrome

SPG21 959 100% Mast Syndrome





SPG7 2918 94% Spastic Paraplegia 7

SPHAR 196 100% .

SPHK1 1437 94% .

SPHK2 2214 97% .

SPHKAP 5151 100% .

SPI1 836 98% .

SPIB 813 80% .

SPIC 760 100% .

SPICE1 2636 100% .

SPIN1 809 100% .

SPIN2A 781 85% .

SPIN2B 781 86% .

SPIN3 781 100% .

SPIN4 754 100% .

SPINK1 260 100% Hereditary Pancreatitis

SPINK1 260 100% SPINK1‐Related Hereditary Pancreatitis

SPINK13 301 100% .

SPINK14 310 88% .

SPINK2 421 51%SPINK2 421 51% .

SPINK4 277 100% .

SPINK5 3502 100% Netherton Syndrome

SPINK6 259 100% .

SPINK7 274 100% .

SPINK8 314 100% .

SPINK9 277 100% .

SPINLW1 461 100% .

SPINLW1‐WFDC6 603 100% .

SPINT1 1630 100% .

SPINT2 787 88% .

SPINT3 278 100% .

SPINT4 312 100% .

SPIRE1 2391 86% .





SPIRE2 2349 89% .

SPN 1207 100% .

SPNS1 1662 97% .

SPNS2 1698 78% .

SPNS3 1587 99% .

SPO11 1243 100% .

SPOCD1 4022 94% .

SPOCK1 1360 100% .

SPOCK2 1368 92% .

SPOCK3 1367 100% .

SPON1 2487 97% .

SPON2 1016 83% .

SPOP 1162 100% .

SPOPL 1219 100% .

SPP1 970 100% .

SPP2 664 100% .

SPPL2A 1623 96% .

SPPL2B 1937 92% .

SPPL3 1200 97%SPPL3 1200 97% .

SPR 798 65% Sepiapterin Reductase Deficiency

SPRED1 1363 100% Legius Syndrome

SPRED2 1302 99% .

SPRED3 1293 71% .

SPRN 1 0% .

SPRR1A 274 100% .

SPRR1B 274 100% .

SPRR2A 223 100% .

SPRR2B 223 100% .

SPRR2D 223 100% .

SPRR2E 223 100% .

SPRR2F 223 100% .

SPRR2G 226 100% .





SPRR3 514 100% .

SPRR4 244 100% .

SPRY1 964 100% .

SPRY2 952 100% .

SPRY3 872 100% .

SPRY4 977 100% .

SPRYD3 1373 98% .

SPRYD4 632 100% .

SPRYD5 1383 100% .

SPRYD7 611 100% .

SPSB1 830 100% .

SPSB2 2 0% .

SPSB3 1092 100% .

SPSB4 830 72% .

SPTA1 7468 100% Spherocytosis, Type 3

SPTAN1 7681 100% .

SPTB 7208 99% Spherocytosis, Type 2

SPTBN1 7435 100% .

SPTBN2 7317 100% Spinocerebellar Ataxia Type 5SPTBN2 7317 100% Spinocerebellar Ataxia Type 5

SPTBN4 7929 79% .

SPTBN5 11293 97% .

SPTLC1 1643 100% Hereditary Sensory and Autonomic Neuropathy II

SPTLC1 1643 100% Hereditary Sensory Neuropathy Type I

SPTLC2 1737 92% .

SPTLC3 1707 100% .

SPTSSA 224 100% .

SPTSSB 235 100% .

SPTY2D1 2082 100% .

SPZ1 1297 100% .

SQLE 1769 100% .

SQRDL 1389 100% .

SQSTM1 1488 95% Paget Disease of Bone





SRA1 731 98% .

SRBD1 3068 100% .

SRC 1655 99% .

SRCAP 9896 100% .

SRCIN1 3785 76% .

SRCRB4D 1768 79% .

SRD5A1 800 94% .

SRD5A2 784 100% Prostate Cancer

SRD5A2 784 100% Steroid 5‐Alpha‐Reductase Deficiency

SRD5A3 977 98% Congenital Disorders of Glycosylation

SRD5A3 977 98% SRD5A3‐CDG (CDG‐Iq)

SREBF1 3807 93% .

SREBF2 3502 96% .

SREK1 1923 92% .

SREK1IP1 530 100% .

SRF 1663 86% .

SRFBP1 1322 100% .

SRGAP1 3346 100% .

SRGAP2 3043 96%SRGAP2 3043 96% .

SRGAP3 3423 100% .

SRGN 489 100% .

SRI 657 93% .

SRL 1446 100% .

SRM 941 95% .

SRMS 1499 90% .

SRP14 431 100% .

SRP19 496 100% .

SRP54 1575 100% .

SRP68 1953 100% .

SRP72 2092 100% .

SRP9 385 71% .

SRPK1 2145 97% .





SRPK2 2334 99% .

SRPK3 1876 97% .

SRPR 1973 100% .

SRPRB 844 100% .

SRPX 1435 98% .

SRPX2 1438 100% Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X‐Linked

SRR 1051 100% .

SRRD 1048 80% .

SRRM1 2783 100% .

SRRM2 8318 100% .

SRRM3 2349 69% .

SRRM4 1888 100% .

SRRM5 2316 18% .

SRRT 2840 100% .

SRSF1 895 100% .

SRSF10 922 29% .

SRSF11 1681 100% .

SRSF12 814 100% .

SRSF2 738 100%SRSF2 738 100% .

SRSF3 515 100% .

SRSF4 1509 100% .

SRSF5 847 100% .

SRSF6 1059 88% .

SRSF7 772 100% .

SRSF8 340 96% .

SRSF9 682 100% .

SRXN1 422 81% .

SRY 619 100% 46,XX Testicular Disorder of Sex Development

SRY 619 100% 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis

SRY 619 100% SRY‐Related 46,XY DSD and 46,XY CGD

SS18 1310 99% .

SS18L1 1235 92% .





SS18L2 246 100% .

SSB 1271 100% .

SSBP1 471 100% .

SSBP2 1199 97% .

SSBP3 1290 97% .

SSBP4 1230 77% .

SSC5D 4779 84% .

SSFA2 3948 96% .

SSH1 3603 98% .

SSH2 4336 100% .

SSH3 2036 97% .

SSNA1 372 100% .

SSPN 744 82% .

SSPO 16587 94% .

SSR1 901 100% .

SSR2 593 100% .

SSR3 631 100% .

SSR4 733 95% .

SSRP1 3186 99%SSRP1 3186 99% .

SSSCA1 616 100% .

SST 359 88% .

SSTR1 1466 84% .

SSTR2 1114 100% .

SSTR3 1261 100% .

SSTR4 1171 100% .

SSTR5 1099 100% .

SSU72 968 100% .

SSX1 591 100% .

SSX2 1482 0% .

SSX2B 1182 0% .

SSX2IP 1900 100% .

SSX3 658 100% .





SSX4 1252 28% .

SSX4B 1252 28% .

SSX5 818 100% .

SSX7 591 100% .

ST13 1158 100% .

ST14 2644 95% .

ST18 3224 100% .

ST20 248 80% .

ST20‐MTHFS 552 91% .

ST3GAL1 1047 100% .

ST3GAL2 1077 100% .

ST3GAL3 1387 100% .

ST3GAL4 1073 99% .

ST3GAL5 1442 94% .

ST3GAL6 1043 100% .

ST5 3515 100% .

ST6GAL1 1241 100% .

ST6GAL2 1697 100% .

ST6GALNAC1 1839 100%ST6GALNAC1 1839 100% .

ST6GALNAC2 1161 91% .

ST6GALNAC3 954 100% .

ST6GALNAC4 929 100% .

ST6GALNAC5 1031 100% .

ST6GALNAC6 1153 100% .

ST7 2257 100% .

ST7L 1827 100% .

ST8SIA1 1095 100% .

ST8SIA2 1152 94% .

ST8SIA3 1159 100% .

ST8SIA4 1104 100% .

ST8SIA5 1159 100% .

ST8SIA6 1229 91% .





STAB1 7989 99% .

STAB2 7932 99% .

STAC 1253 100% .

STAC2 1280 98% .

STAC3 1139 100% .

STAG1 3909 100% .

STAG2 3939 100% .

STAG3 4116 100% .

STAM 1679 100% .

STAM2 1634 100% .

STAMBP 1311 100% .

STAMBPL1 1351 100% .

STAP1 924 100% .

STAP2 1402 87% .

STAR 886 100% Cholesterol Desmolase‐Deficient Congenital Adrenal Hyperplasia

STARD10 900 100% .

STARD13 3549 100% .

STARD3 1394 100% .

STARD3NL 733 100%STARD3NL 733 100% .

STARD4 721 100% .

STARD5 666 100% .

STARD6 687 100% .

STARD7 1147 98% .

STARD8 3372 99% .

STARD9 13975 50% .

STAT1 2353 100% Familial Atypical Mycobacteriosis, STAT1‐Related

STAT2 2713 100% .

STAT3 2405 100% Autosomal Dominant Hyper IgE Syndrome

STAT4 2339 100% .

STAT5A 2457 96% .

STAT5B 2436 96% Growth Hormone Insensitivity with Immunodeficiency

STAT6 2628 100% .





STATH 205 100% .

STAU1 1800 100% .

STAU2 1790 96% .

STBD1 1085 100% .

STC1 760 100% .

STC2 925 100% .

STEAP1 1067 100% .

STEAP1B 1128 100% .

STEAP2 1568 100% .

STEAP3 1517 100% .

STEAP4 1432 100% .

STH 2 0% .

STIL 3987 100% Primary Autosomal Recessive Microcephaly

STIL 3987 100% Primary Autosomal Recessive Microcephaly Type 7

STIM1 2106 100% .

STIM2 2619 85% .

STIP1 1688 99% .

STK10 2983 98% .

STK11 1340 98% Peutz Jeghers SyndromeSTK11 1340 98% Peutz‐Jeghers Syndrome

STK11IP 3693 100% .

STK16 1081 100% .

STK17A 1273 96% .

STK17B 1147 100% .

STK19 1269 92% .

STK24 1426 97% .

STK25 1440 100% .

STK3 1634 91% .

STK31 3158 100% .

STK32A 1240 100% .

STK32B 1293 100% .

STK32C 1570 92% .

STK33 1593 100% .





STK35 1617 71% .

STK36 4052 100% .

STK38 1450 100% .

STK38L 1447 100% .

STK39 1710 88% .

STK4 1508 97% .

STK40 1528 100% .

STMN1 627 76% .

STMN2 561 100% .

STMN3 563 89% .

STMN4 675 100% .

STOM 895 93% .

STOML1 1225 99% .

STOML2 1111 100% .

STOML3 933 97% .

STON1 2220 100% .

STON1‐GTF2A1L 3656 100% .

STON2 2739 100% .

STOX1 2986 89%STOX1 2986 89% .

STOX2 2797 100% .

STRA13 208 92% .

STRA6 2249 91% .

STRA8 1029 89% .

STRADA 1402 100% .

STRADB 1325 100% .

STRAP 1093 100% .

STRBP 2087 100% .

STRC 5558 44% CATSPER‐Related Male Infertility

STRC 5558 44% Deafness‐Infertility Syndrome

STRC 5558 44% DFNB16 Nonsyndromic Hearing Loss and Deafness

STRC 5558 44% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

STRN 2415 98% .





STRN3 2466 94% .

STRN4 2351 87% .

STS 1792 100% Ichthyosis, X‐Linked

STT3A 2186 100% .

STT3B 2562 99% .

STUB1 940 88% .

STX10 850 100% .

STX11 868 100% Familial Hemophagocytic Lymphohistiocytosis

STX11 868 100% Familial Hemophagocytic Lymphohistiocytosis 4

STX12 867 100% .

STX16 1017 100% Pseudohypoparathyroidism Type IB

STX17 937 100% .

STX18 1055 100% .

STX19 889 100% .

STX1A 1113 97% .

STX1B 907 100% .

STX2 989 97% .

STX3 962 95% .

STX4 956 97%STX4 956 97% .

STX5 1150 93% .

STX6 800 100% .

STX7 822 100% .

STX8 743 97% .

STXBP1 1975 98% Epileptic Encephalopathy, Early Infantile, 4

STXBP2 2652 78% Familial Hemophagocytic Lymphohistiocytosis

STXBP2 2652 78% Familial Hemophagocytic Lymphohistiocytosis 5

STXBP3 1855 97% .

STXBP4 1732 100% .

STXBP5 3568 100% .

STXBP5L 3730 100% .

STXBP6 798 100% .

STYK1 1305 100% .





STYX 716 100% .

STYXL1 1099 100% .

SUB1 402 100% .

SUCLA2 1436 99% Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form

SUCLA2 1436 99% SUCLA2‐Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria

SUCLG1 1095 91% Fatal Infantile Lactic Acidosis

SUCLG1 1095 91% Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form

SUCLG1 1095 91% SUCLG1‐Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria

SUCLG2 1487 88% .

SUCNR1 1013 100% .

SUDS3 1035 89% .

SUFU 1663 100% Medulloblastoma, SUFU‐Related

SUGP1 1994 100% .

SUGP2 3436 99% .

SUGT1 1154 91% .

SULF1 2692 100% .

SULF2 2693 97% .

SULT1A1 1290 94% .

SULT1A2 916 100%SULT1A2 916 100% .

SULT1A3 1959 7% .

SULT1A4 1959 7% .

SULT1B1 919 100% .

SULT1C2 1060 91% .

SULT1C3 943 100% .

SULT1C4 937 100% .

SULT1E1 913 100% .

SULT2A1 882 100% .

SULT2B1 1152 99% .

SULT4A1 883 96% .

SULT6B1 826 100% .

SUMF1 1161 99% Sulfatidosis, Juvenile, Austin Type

SUMF2 1327 99% .





SUMO1 326 100% Cleft Lip +/‐ Cleft Palate

SUMO2 304 100% .

SUMO3 538 95% .

SUMO4 292 100% .

SUN1 2573 100% .

SUN2 2530 99% .

SUN3 1188 100% .

SUN5 1344 95% .

SUOX 1650 100% Sulfocysteinuria

SUPT16H 3248 100% .

SUPT3H 1164 100% .

SUPT4H1 374 100% .

SUPT5H 3563 100% .

SUPT6H 5325 100% .

SUPT7L 1273 100% .

SUPV3L1 2421 100% .

SURF1 939 88% Leigh Syndrome (nuclear DNA mutation)

SURF1 939 88% Mitochondrial Respiratory Chain Complex IV Deficiency (nuclear genes)

SURF2 795 82%SURF2 795 82% .

SURF4 834 94% .

SURF6 1106 100% .

SUSD1 2316 95% .

SUSD2 2529 99% .

SUSD3 788 88% .

SUSD4 1658 100% .

SUSD5 1910 94% .

SUV39H1 1270 99% .

SUV39H2 1257 98% .

SUV420H1 2714 100% .

SUV420H2 1421 90% .

SUZ12 2284 98% .

SV2A 2281 100% .





SV2B 2100 100% .

SV2C 2232 100% .

SVEP1 10924 99% .

SVIL 6785 100% .

SVIP 250 94% .

SVOP 1509 60% .

SVOPL 1539 100% .

SWAP70 1806 98% .

SWI5 728 100% .

SWSAP1 698 100% .

SWT1 2775 100% .

SYAP1 1095 95% .

SYBU 2035 99% .

SYCE1 1151 100% .

SYCE1L 808 54% .

SYCE2 681 100% .

SYCE3 275 70% .

SYCN 413 100% .

SYCP1 3055 100%SYCP1 3055 100% .

SYCP2 4765 100% .

SYCP2L 2555 100% .

SYCP3 782 100% Azoospermia due to Perturbations of Meiosis

SYCP3 782 100% SYCP3‐Related Pregnancy Loss, Susceptibility to

SYDE1 2240 64% .

SYDE2 3661 92% .

SYF2 760 100% .

SYK 1960 100% .

SYMPK 4225 91% .

SYN1 2170 67% Epilepsy, X‐Linked, with Variable Learning Disabilities and Behavior Disorders

SYN2 1895 86% .

SYN3 1795 96% .

SYNC 1531 96% .





SYNCRIP 1958 100% .

SYNDIG1 789 100% .

SYNDIG1L 729 100% .

SYNE1 27469 100% SYNE1‐ Related Emery‐Dreifuss Muscular Dystrophy

SYNE1 27469 100% SYNE1‐Related Autosomal Recessive Cerebellar Ataxia

SYNE2 21229 100% SYNE2‐Related Emery‐Dreifuss Muscular Dystrophy

SYNGAP1 4140 96% Mental Retardation, Autosomal Dominant 5

SYNGR1 1019 97% .

SYNGR2 691 85% .

SYNGR3 706 66% .

SYNGR4 721 100% .

SYNJ1 5001 98% .

SYNJ2 4649 95% .

SYNJ2BP 454 100% .

SYNJ2BP‐COX16 718 100% .

SYNM 4713 85% .

SYNPO 3486 82% .

SYNPO2 3918 98% .

SYNPO2L 3054 93%SYNPO2L 3054 93% .

SYNPR 910 90% .

SYNRG 4282 97% .

SYP 1096 92% SYP‐Related X‐linked Mental Retardation

SYPL1 804 95% .

SYPL2 843 84% .

SYS1 488 90% .

SYT1 1301 100% .

SYT10 1600 100% .

SYT11 1312 100% .

SYT12 1294 100% .

SYT13 1305 100% .

SYT14 1886 93% .

SYT15 1719 87% .





SYT16 1962 100% .

SYT17 1462 99% .

SYT2 1292 100% .

SYT3 1805 98% .

SYT4 1294 100% .

SYT5 1193 99% .

SYT6 1562 94% .

SYT7 1249 89% .

SYT8 1398 98% .

SYT9 1504 91% .

SYTL1 2029 75% .

SYTL2 6883 100% .

SYTL3 1893 100% .

SYTL4 2125 100% .

SYTL5 2327 97% .

SYVN1 2043 100% .

SZT2 8348 100% .

T 1340 100% .

TAAR1 1024 100%TAAR1 1024 100% .

TAAR2 1064 100% .

TAAR5 1018 100% .

TAAR6 1042 100% Schizophrenia

TAAR8 1033 100% .

TAAR9 1046 100% .

TAB1 1645 99% .

TAB2 2106 100% .

TAB3 2167 100% .

TAC1 414 100% .

TAC3 386 100% .

TAC4 401 100% .

TACC1 2519 95% .

TACC2 9249 100% .





TACC3 2603 96% .

TACO1 914 92% Mitochondrial Respiratory Chain Complex IV Deficiency (nuclear genes)

TACR1 1248 100% .

TACR2 1218 100% .

TACR3 1418 100% Isolated Gonadotropin‐Releasing Hormone (GnRH) Deficiency

TACR3 1418 100% TACR3‐Related Isolated Gonadotropin‐Releasing Hormone (GnRH) Deficiency

TACSTD2 976 81% Corneal Dystrophy, Gelatinous Drop‐Like

TADA1 1040 100% .

TADA2A 1487 100% .

TADA2B 1271 95% .

TADA3 1335 100% .

TAF1 5859 100% X‐Linked Dystonia‐Parkinsonism Syndrome

TAF10 677 75% .

TAF11 656 100% .

TAF12 506 100% .

TAF13 391 100% .

TAF15 1843 100% .

TAF1A 1393 100% .

TAF1B 1827 99%TAF1B 1827 99% .

TAF1C 2662 97% .

TAF1D 857 100% .

TAF1L 5485 100% .

TAF2 3704 100% .

TAF3 2818 99% .

TAF4 3318 63% .

TAF4B 2664 98% .

TAF5 2447 92% .

TAF5L 1905 100% .

TAF6 2448 100% .

TAF6L 1909 91% .

TAF7 1054 100% .

TAF7L 1441 100% .





TAF8 1013 96% .

TAF9 1361 99% .

TAF9B 784 100% .

TAGAP 2250 100% .

TAGLN 680 100% .

TAGLN2 644 100% .

TAGLN3 785 97% .

TAL1 1014 76% .

TAL2 331 100% .

TALDO1 1046 100% Transaldolase Deficiency

TAMM41 1000 100% .

TANC1 5686 100% .

TANC2 6160 100% .

TANK 1391 100% .

TAOK1 3082 100% .

TAOK2 4698 99% .

TAOK3 2773 100% .

TAP1 2548 96% .

TAP2 2223 96%TAP2 2223 96% .

TAPBP 1656 98% .

TAPBPL 1435 98% .

TAPT1 2100 90% .

TARBP1 4986 88% .

TARBP2 1137 87% .

TARDBP 1265 100% Amyotrophic Lateral Sclerosis

TARDBP 1265 100% TARDBP‐Related Amyotrophic Lateral Sclerosis

TARDBP 1265 100% TARDBP‐Related Frontotemporal Dementia

TARM1 836 1% .

TARP 533 100% .

TARS 2248 100% .

TARS2 2379 100% .

TARSL2 2485 96% .





TAS1R1 2550 100% .

TAS1R2 2544 100% .

TAS1R3 2583 100% .

TAS2R1 904 100% .

TAS2R10 928 100% .

TAS2R13 916 100% .

TAS2R14 958 100% .

TAS2R16 880 100% .

TAS2R19 904 100% .

TAS2R20 934 100% .

TAS2R3 955 100% .

TAS2R30 40 100% .

TAS2R31 1 0% .

TAS2R38 1006 100% .

TAS2R39 1021 100% .

TAS2R4 904 100% .

TAS2R40 976 100% .

TAS2R41 928 100% .

TAS2R42 949 100%TAS2R42 949 100% .

TAS2R43 406 99% .

TAS2R46 463 100% .

TAS2R5 904 100% .

TAS2R50 904 100% .

TAS2R60 961 100% .

TAS2R7 961 100% .

TAS2R8 934 100% .

TAS2R9 943 100% .

TASP1 1315 100% .

TAT 1409 97% Tyrosinemia Type II

TATDN1 942 100% .

TATDN2 2310 100% .

TATDN3 865 100% .





TAX1BP1 2434 100% .

TAX1BP3 391 100% .

TAZ 1094 97% 3‐Methylglutaconic Aciduria Type 2

TAZ 1094 97% Dilated Cardiomyopathy

TAZ 1094 97% Endocardial Fibroelastosis

TAZ 1094 97% Familial Isolated Noncompaction of Left Ventricular Myocardium

TAZ 1094 97% TAZ‐Related Dilated Cardiomyopathy

TBC1D1 3874 100% .

TBC1D10A 1584 100% .

TBC1D10B 2464 82% .

TBC1D10C 1377 80% .

TBC1D12 2380 82% .

TBC1D13 1251 99% .

TBC1D14 2141 100% .

TBC1D15 2219 97% .

TBC1D16 2348 97% .

TBC1D17 2015 94% .

TBC1D19 1665 100% .

TBC1D2 2839 100%TBC1D2 2839 100% .

TBC1D20 1244 94% .

TBC1D21 1055 100% .

TBC1D22A 1606 96% .

TBC1D22B 1570 99% .

TBC1D23 2200 100% .

TBC1D24 1708 98% .

TBC1D25 2139 94% .

TBC1D26 876 91% .

TBC1D28 661 88% .

TBC1D29 473 100% .

TBC1D2B 2944 91% .

TBC1D3 3404 19% .

TBC1D30 2334 87% .





TBC1D3B 1702 40% .

TBC1D3C 1702 26% .

TBC1D3F 3404 19% .

TBC1D3G 1702 32% .

TBC1D3H 1702 4% .

TBC1D4 3984 100% .

TBC1D5 2569 100% .

TBC1D7 910 100% .

TBC1D8 3503 96% .

TBC1D8B 3579 100% .

TBC1D9 3885 100% .

TBC1D9B 4160 93% .

TBCA 487 92% .

TBCB 857 85% .

TBCC 1045 100% .

TBCCD1 1698 100% .

TBCD 3791 95% .

TBCE 1648 100% .

TBCEL 1303 100%TBCEL 1303 100% .

TBCK 2782 99% .

TBK1 2270 100% .

TBKBP1 1884 67% .

TBL1X 1794 95% .

TBL1XR1 1601 100% .

TBL1Y 1625 100% .

TBL2 1372 100% .

TBL3 2515 97% .

TBP 1048 100% Spinocerebellar Ataxia Type17

TBPL1 596 100% .

TBPL2 1156 100% .

TBR1 2073 87% .

TBRG1 1272 100% .





TBRG4 2008 100% .

TBX1 1826 77% 22q11.2 Deletion Syndrome

TBX10 1190 99% .

TBX15 1636 100% .

TBX18 1856 97% .

TBX19 1479 100% ACTH Deficiency

TBX2 2167 79% .

TBX20 1376 100% .

TBX21 1632 82% .

TBX22 1595 100% Cleft Palate, X‐Linked

TBX3 2339 81% Ulnar‐Mammary Syndrome

TBX4 1673 91% Small Patella Syndrome

TBX5 1657 100% TBX5‐Related Holt‐Oram Syndrome

TBX6 1392 98% .

TBXA2R 1422 87% .

TBXAS1 1803 100% .

TC2N 1517 100% .

TCAP 512 100% Dilated Cardiomyopathy

TCAP 512 100% Familial Hypertrophic CardiomyopathyTCAP 512 100% Familial Hypertrophic Cardiomyopathy

TCAP 512 100% Limb‐Girdle Muscular Dystrophies, Autosomal Recessive

TCAP 512 100% TCAP‐Related Dilated Cardiomyopathy

TCAP 512 100% TCAP‐Related Familial Hypertrophic Cardiomyopathy

TCAP 512 100% Telethoninopathy

TCEA1 946 100% .

TCEA2 940 92% .

TCEA3 1093 100% .

TCEAL1 484 99% .

TCEAL2 688 100% .

TCEAL3 607 100% .

TCEAL4 679 100% .

TCEAL5 625 100% .

TCEAL6 556 100% .





TCEAL7 307 100% .

TCEAL8 358 100% .

TCEANC 1154 93% .

TCEANC2 733 100% .

TCEB1 351 100% .

TCEB2 510 97% .

TCEB3 2441 93% .

TCEB3B 2266 100% .

TCEB3C 3290 41% .

TCEB3CL 3291 41% .

TCERG1 3385 100% .

TCERG1L 1809 79% .

TCF12 2270 100% .

TCF15 608 47% .

TCF19 1068 98% .

TCF20 5928 100% .

TCF21 548 100% .

TCF23 657 88% .

TCF24 437 9%TCF24 437 9% .

TCF25 2103 100% .

TCF3 2429 85% .

TCF4 2479 94% Pitt‐Hopkins Syndrome

TCF7 1629 84% .

TCF7L1 1815 88% .

TCF7L2 2135 99% .

TCFL5 1527 83% .

TCHH 5840 98% .

TCHHL1 2723 100% .

TCHP 1545 100% .

TCIRG1 2569 82% TCIRG1‐Related Autosomal Recessive Osteopetrosis

TCL1A 357 100% .

TCL1B 399 100% .





TCN1 1338 100% .

TCN2 1371 100% Transcobalamin II Deficiency

TCOF1 4738 97% Treacher Collins Syndrome

TCP1 1719 100% .

TCP10 1118 85% .

TCP10L 664 100% .

TCP10L2 1090 95% .

TCP11 1742 93% .

TCP11L1 1566 100% .

TCP11L2 1596 100% .

TCTA 324 100% .

TCTE1 1806 95% .

TCTE3 613 100% .

TCTEX1D1 556 100% .

TCTEX1D2 453 100% .

TCTEX1D4 670 57% .

TCTN1 2009 96% .

TCTN2 2166 100% .

TCTN3 2063 100%TCTN3 2063 100% .

TDG 1351 100% .

TDGF1 591 100% .

TDO2 1269 100% .

TDP1 1887 100% Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal Recessive

TDP2 1117 100% .

TDRD1 3675 100% .

TDRD10 1182 100% .

TDRD12 1240 98% .

TDRD3 2242 93% .

TDRD5 3176 100% .

TDRD6 6321 96% .

TDRD7 3361 100% .

TDRD9 4293 98% .





TDRKH 1734 100% .

TEAD1 1280 100% .

TEAD2 1388 100% .

TEAD3 1404 100% .

TEAD4 1349 100% .

TEC 1966 100% .

TECPR1 3639 97% .

TECPR2 4312 100% .

TECR 979 100% .

TECRL 1142 100% .

TECTA 6560 100% DFNA 8/12 Nonsyndromic Hearing Loss and Deafness

TECTA 6560 100% DFNB21 Nonsyndromic Hearing Loss and Deafness

TECTA 6560 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

TECTA 6560 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

TECTB 1030 100% .

TEDDM1 826 100% .

TEF 1014 80% .

TEFM 1099 100% .

TEK 3477 100% Multiple Cutaneous and Mucosal Venous MalformationsTEK 3477 100% Multiple Cutaneous and Mucosal Venous Malformations

TEKT1 1285 100% .

TEKT2 1329 100% .

TEKT3 1501 100% .

TEKT4 1332 98% .

TEKT5 1486 100% .

TELO2 2594 95% .

TEN1 384 98% .

TENC1 4545 100% .

TEP1 8100 100% .

TEPP 929 99% .

TERF1 1542 99% .

TERF2 1543 99% .

TERF2IP 1212 95% .





TERT 3463 82% Aplastic Anemia, TERT‐Related

TERT 3463 82% Dyskeratosis Congenita

TERT 3463 82% Familial Pulmonary Fibrosis

TERT 3463 82% TERT‐Related Dyskeratosis Congenita

TERT 3463 82% TERT‐Related Familial Pulmonary Fibrosis

TERT 3463 82% TERT‐Related Idiopathic Pulmonary Fibrosis

TES 1435 98% .

TESC 836 57% .

TESK1 1921 96% .

TESK2 1756 100% .

TET1 6455 100% .

TET2 6184 98% .

TET3 5064 100% .

TEX10 2847 100% .

TEX101 831 100% .

TEX11 2980 97% .

TEX12 388 100% .

TEX13A 1240 100% .

TEX13B 947 100%TEX13B 947 100% .

TEX14 4622 100% .

TEX15 8386 100% .

TEX19 499 100% .

TEX2 3449 100% .

TEX22 465 69% .

TEX261 615 100% .

TEX264 959 100% .

TEX28 1249 0% .

TEX9 1224 100% .

TF 2250 99% Atransferrinemia

TFAM 889 94% .

TFAP2A 1416 98% Branchiooculofacial Syndrome

TFAP2B 1411 99% Char Syndrome





TFAP2C 1381 98% .

TFAP2D 1391 100% .

TFAP2E 1357 71% .

TFAP4 1350 99% .

TFB1M 1069 100% .

TFB2M 1223 100% .

TFCP2 1569 100% .

TFCP2L1 1500 100% .

TFDP1 1279 100% .

TFDP2 1469 97% .

TFDP3 1222 100% .

TFE3 1866 97% .

TFEB 1725 88% .

TFEC 1236 94% .

TFF1 267 99% .

TFF2 406 98% .

TFF3 576 100% .

TFG 1231 100% .

TFIP11 2605 100%TFIP11 2605 100% .

TFPI 1115 100% .

TFPI2 728 100% .

TFPT 786 100% .

TFR2 2479 89% TFR2‐Related Hereditary Hemochromatosis

TFRC 2355 100% .

TG 8499 100% Thyroid Dyshormonogenesis 3

TGDS 1101 100% .

TGFA 507 91% .

TGFB1 1201 84% Camurati‐Engelmann Disease

TGFB1I1 1430 100% .

TGFB2 1361 100% .

TGFB3 1267 100% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 1

TGFB3 1267 100% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant





TGFBI 2170 94% Avellino Corneal Dystrophy

TGFBI 2170 94% Corneal Dystrophy of Bowman Layer, Type 1

TGFBI 2170 94% Lattice Corneal Dystrophy Type I

TGFBI 2170 94% Lattice Corneal Dystrophy Type IIIa

TGFBR1 1548 93% Furlong Syndrome

TGFBR1 1548 93% Loeys‐Dietz Syndrome

TGFBR1 1548 93% TGFBR1‐Related Loeys‐Dietz Syndrome

TGFBR1 1548 93% TGFBR1‐Related Thoracic Aortic Aneurysms and Aortic Dissections

TGFBR1 1548 93% Thoracic Aortic Aneurysms and Aortic Dissections

TGFBR2 1812 98% Loeys‐Dietz Syndrome

TGFBR2 1812 98% TGFBR2‐Related Loeys‐Dietz Syndrome

TGFBR2 1812 98% TGFBR2‐Related Thoracic Aortic Aneurysms and Aortic Dissections

TGFBR2 1812 98% Thoracic Aortic Aneurysms and Aortic Dissections

TGFBR3 2620 99% .

TGFBRAP1 2627 100% .

TGIF1 1300 99% Holoprosencephaly

TGIF1 1300 99% TGIF1‐Related Holoprosencephaly

TGIF2 722 100% .

TGIF2 C20ORF24 684 100%TGIF2‐C20ORF24 684 100% .

TGIF2LX 730 100% .

TGIF2LY 562 100% .

TGM1 2510 99% Autosomal Recessive Congenital Ichthyosis

TGM1 2510 99% TGM1‐Related Autosomal Recessive Congenital Ichthyosis

TGM2 2116 99% .

TGM3 2134 99% .

TGM4 2111 100% .

TGM5 2215 100% .

TGM6 2173 100% .

TGM7 2186 100% .

TGOLN2 1455 100% .

TGS1 2614 100% .

TH 1643 91% Dopa‐Responsive Dystonia





TH 1643 91% Tyrosine Hydroxylase Deficiency

TH 1643 91% Tyrosine Hydroxylase‐Deficient Dopa‐Responsive Dystonia

TH1L 1833 96% .

THADA 6330 100% .

THAP1 654 100% Dystonia 6

THAP10 786 99% .

THAP11 949 90% .

THAP2 699 100% .

THAP3 834 92% .

THAP4 1847 99% .

THAP5 1200 100% .

THAP6 730 100% .

THAP7 946 79% .

THAP8 841 80% .

THAP9 2742 100% .

THBD 1732 78% Atypical Hemolytic‐Uremic Syndrome

THBD 1732 78% THBD‐Related Atypical Hemolytic‐Uremic Syndrome

THBS1 3597 100% .

THBS2 3603 99%THBS2 3603 99% .

THBS3 2963 100% .

THBS4 2974 97% .

THEG 1172 100% .

THEG5 2 0% .

THEM4 747 86% .

THEM5 988 96% .

THEMIS 1951 100% .

THG1L 921 100% .

THNSL1 2236 100% .

THNSL2 1632 100% .

THOC1 2058 100% .

THOC2 5037 100% .

THOC3 1172 84% .





THOC5 2131 100% .

THOC6 1078 100% .

THOC7 650 96% .

THOP1 2122 98% .

THPO 1082 100% .

THRA 1632 100% .

THRAP3 2908 100% .

THRB 1418 100% Thyroid Hormone Resistance

THRSP 445 100% .

THSD1 2575 100% .

THSD4 3289 89% .

THSD7A 5082 100% .

THSD7B 4787 100% .

THTPA 701 100% .

THUMPD1 1336 76% .

THUMPD2 1552 92% .

THUMPD3 1564 100% .

THY1 498 100% .

THYN1 706 100%THYN1 706 100% .

TIA1 1287 100% .

TIAF1 352 100% .

TIAL1 1285 100% .

TIAM1 4876 100% .

TIAM2 5202 100% .

TICAM1 2143 100% .

TICAM2 712 100% .

TIE1 3572 96% .

TIFA 559 100% .

TIFAB 490 100% .

TIGD1 1780 0% .

TIGD2 1582 100% .

TIGD3 1420 100% .





TIGD4 1543 100% .

TIGD5 1933 70% .

TIGD6 1570 100% .

TIGD7 1654 100% .

TIGIT 952 100% .

TIMD4 1173 100% .

TIMELESS 3739 100% .

TIMM10 281 100% .

TIMM13 300 98% .

TIMM17A 540 100% .

TIMM17B 544 99% .

TIMM21 771 100% .

TIMM22 601 100% .

TIMM23 658 40% .

TIMM44 1411 98% .

TIMM50 1415 99% .

TIMM8A 303 100% Deafness‐Dystonia‐Optic Neuronopathy Syndrome

TIMM8B 305 100% .

TIMM9 282 100%TIMM9 282 100% .

TIMMDC1 890 100% .

TIMP1 1210 82% .

TIMP2 683 80% .

TIMP3 688 94% Pseudoinflammatory Fundus Dystrophy

TIMP4 695 100% .

TINAG 1523 100% .

TINAGL1 1448 96% .

TINF2 1396 100% Dyskeratosis Congenita

TINF2 1396 100% Revesz Syndrome

TINF2 1396 100% TINF2‐Related Dyskeratosis Congenita

TIPARP 1994 100% .

TIPIN 934 100% .

TIPRL 872 100% .





TIRAP 845 100% .

TJAP1 2003 100% .

TJP1 5419 99% .

TJP2 3802 98% .

TJP3 2939 100% .

TK1 733 100% .

TK2 999 96% Mitochondrial DNA Depletion Syndrome, Myopathic Form

TK2 999 96% TK2‐Related Mitochondrial DNA Depletion Syndrome, Myopathic Form

TKT 1935 100% .

TKTL1 1843 100% .

TKTL2 1885 100% .

TLCD1 817 99% .

TLCD2 811 62% .

TLE1 2449 100% .

TLE2 2382 97% .

TLE3 2441 100% .

TLE4 2467 100% .

TLE6 1805 97% .

TLK1 2431 100%TLK1 2431 100% .

TLK2 2337 100% .

TLL1 3183 99% .

TLL2 3132 100% .

TLN1 7850 100% .

TLN2 7898 100% .

TLR1 2365 100% .

TLR10 2440 100% .

TLR2 2359 100% .

TLR3 2731 100% .

TLR4 2532 100% .

TLR5 2581 100% .

TLR6 2395 100% .

TLR7 3158 100% .





TLR8 3134 100% .

TLR9 3107 100% .

TLX1 1006 91% .

TLX1NB 1 0% .

TLX2 867 82% .

TLX3 888 94% .

TM2D1 854 100% .

TM2D2 759 100% .

TM2D3 824 100% .

TM4SF1 792 100% .

TM4SF18 626 100% .

TM4SF19 749 100% .

TM4SF20 706 100% .

TM4SF4 629 100% .

TM4SF5 614 100% .

TM6SF1 1166 100% .

TM6SF2 1411 93% .

TM7SF2 1297 81% .

TM7SF3 1761 98%TM7SF3 1761 98% .

TM7SF4 1425 100% .

TM9SF1 1884 100% .

TM9SF2 2060 100% .

TM9SF3 1830 94% .

TM9SF4 2001 100% .

TMBIM1 980 96% .

TMBIM4 745 87% .

TMBIM6 928 100% .

TMC1 2481 100% DFNA36 Nonsyndromic Hearing Loss and Deafness

TMC1 2481 100% DFNB 7/11 Nonsyndromic Hearing Loss and Deafness

TMC1 2481 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

TMC1 2481 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

TMC2 3168 96% .





TMC3 3400 100% .

TMC4 2264 95% .

TMC5 3449 100% .

TMC6 2635 88% .

TMC7 2236 97% .

TMC8 2313 88% .

TMCC1 1979 100% .

TMCC2 2150 100% .

TMCC3 1450 94% .

TMCO1 597 100% .

TMCO2 557 100% .

TMCO3 2086 100% .

TMCO4 1957 100% .

TMCO5A 907 100% .

TMCO6 1673 95% .

TMCO7 3357 100% .

TMED1 700 98% .

TMED10 680 100% .

TMED2 622 100%TMED2 622 100% .

TMED3 666 99% .

TMED4 731 83% .

TMED5 777 100% .

TMED6 739 100% .

TMED7 687 100% .

TMED7‐TICAM2 1404 100% .

TMED8 1002 88% .

TMED9 728 98% .

TMEFF1 1183 84% .

TMEFF2 1254 100% .

TMEM100 409 100% .

TMEM101 790 92% .

TMEM102 1535 87% .





TMEM104 1527 100% .

TMEM105 398 100% .

TMEM106A 817 100% .

TMEM106B 853 100% .

TMEM106C 781 100% .

TMEM107 755 100% .

TMEM108 1787 100% .

TMEM109 744 100% .

TMEM11 587 100% .

TMEM110 918 84% .

TMEM110‐MUSTN1 1166 87% .

TMEM111 822 100% .

TMEM114 377 0% .

TMEM115 1064 96% .

TMEM116 1021 100% .

TMEM117 1573 100% .

TMEM119 856 99% .

TMEM120A 12 0% .

TMEM120B 1068 100%TMEM120B 1068 100% .

TMEM121 964 58% .

TMEM123 647 99% .

TMEM125 1 0% .

TMEM126A 604 100% Optic Atrophy 7

TMEM126B 740 100% .

TMEM127 729 90% TMEM127‐Related Pheochromocytoma

TMEM128 442 100% .

TMEM129 1105 48% .

TMEM130 1340 93% .

TMEM131 5820 97% .

TMEM132A 3119 98% .

TMEM132B 3360 100% .

TMEM132C 3276 86% .





TMEM132D 3393 98% .

TMEM132E 2995 99% .

TMEM133 394 100% .

TMEM134 783 52% .

TMEM135 1437 100% .

TMEM136 812 100% .

TMEM138 663 100% .

TMEM139 659 100% .

TMEM140 562 100% .

TMEM141 347 96% .

TMEM143 1412 98% .

TMEM144 1210 100% .

TMEM145 1584 92% .

TMEM146 2485 100% .

TMEM147 707 100% .

TMEM14A 316 100% .

TMEM14B 480 100% .

TMEM14C 359 100% .

TMEM14E 382 100%TMEM14E 382 100% .

TMEM150A 960 100% .

TMEM150B 726 100% .

TMEM150C 778 100% .

TMEM151A 1415 78% .

TMEM151B 1713 43% .

TMEM154 580 100% .

TMEM155 405 98% .

TMEM156 918 100% .

TMEM158 907 33% .

TMEM159 502 100% .

TMEM160 579 41% .

TMEM161A 1488 92% .

TMEM161B 1520 100% .





TMEM163 902 77% .

TMEM164 918 100% .

TMEM165 999 81% .

TMEM167A 235 100% .

TMEM167B 239 98% .

TMEM168 2110 100% .

TMEM169 902 100% .

TMEM17 613 100% .

TMEM170A 447 99% .

TMEM170B 411 77% .

TMEM171 987 100% .

TMEM173 1168 100% .

TMEM174 745 100% .

TMEM175 1556 100% .

TMEM176A 744 100% .

TMEM176B 837 100% .

TMEM177 940 100% .

TMEM178 910 92% .

TMEM179 606 95%TMEM179 606 95% .

TMEM179B 680 93% .

TMEM18 443 100% .

TMEM180 1586 100% .

TMEM181 1909 90% .

TMEM182 710 100% .

TMEM183A 1163 97% .

TMEM183B 1163 97% .

TMEM184A 1274 99% .

TMEM184B 1256 100% .

TMEM184C 1357 100% .

TMEM185A 1081 47% .

TMEM185B 1 0% .

TMEM186 650 100% .





TMEM187 790 100% .

TMEM188 457 94% .

TMEM189 837 85% .

TMEM189‐UBE2V1 1145 89% .

TMEM19 1085 100% .

TMEM190 554 89% .

TMEM191B 9 0% .

TMEM191C 9 0% .

TMEM192 840 100% .

TMEM194A 1371 100% .

TMEM194B 1290 92% .

TMEM196 535 94% .

TMEM198 1099 100% .

TMEM199 651 100% .

TMEM2 4282 100% .

TMEM200A 1480 100% .

TMEM200B 1 0% .

TMEM200C 1870 58% .

TMEM201 2064 92%TMEM201 2064 92% .

TMEM202 842 100% .

TMEM203 415 100% .

TMEM204 693 100% .

TMEM205 582 100% .

TMEM206 1086 100% .

TMEM207 461 100% .

TMEM208 578 100% .

TMEM209 1746 100% .

TMEM211 410 100% .

TMEM212 601 100% .

TMEM213 489 95% .

TMEM214 2254 93% .

TMEM215 712 100% .





TMEM216 278 99% Meckel Syndrome

TMEM216 278 99% TMEM216‐Related Joubert Syndrome

TMEM217 698 100% .

TMEM218 360 100% .

TMEM219 739 100% .

TMEM22 1243 100% .

TMEM220 507 85% .

TMEM221 702 52% .

TMEM222 655 95% .

TMEM223 617 93% .

TMEM225 694 100% .

TMEM229A 1147 70% .

TMEM229B 508 100% .

TMEM231 1072 99% .

TMEM232 2079 57% .

TMEM233 342 0% .

TMEM234 658 100% .

TMEM235 1340 29% .

TMEM236 2179 6%TMEM236 2179 6% .

TMEM237 1434 97% .

TMEM238 535 0% .

TMEM239 546 88% .

TMEM240 538 68% .

TMEM241 951 100% .

TMEM242 502 100% .

TMEM25 1166 91% .

TMEM26 1131 100% .

TMEM27 693 100% .

TMEM30A 1114 100% .

TMEM30B 1060 84% .

TMEM31 589 100% .

TMEM33 772 99% .





TMEM35 512 100% .

TMEM37 581 96% .

TMEM38A 924 100% .

TMEM38B 900 100% .

TMEM39A 1499 100% .

TMEM39B 1653 98% .

TMEM40 762 100% .

TMEM41A 815 100% .

TMEM41B 911 97% .

TMEM42 492 61% .

TMEM43 1251 100% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 5

TMEM43 1251 100% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant

TMEM44 1548 77% .

TMEM45A 851 100% .

TMEM45B 848 100% .

TMEM47 558 80% .

TMEM48 2097 97% .

TMEM5 1356 100% .

TMEM50A 498 100%TMEM50A 498 100% .

TMEM50B 501 100% .

TMEM51 770 100% .

TMEM52 864 73% .

TMEM53 846 100% .

TMEM54 693 98% .

TMEM55A 802 100% .

TMEM55B 883 88% .

TMEM56 816 100% .

TMEM56‐RWDD3 1001 100% .

TMEM57 2039 100% .

TMEM59 1063 100% .

TMEM59L 1061 85% .

TMEM60 406 100% .





TMEM61 645 99% .

TMEM62 1988 91% .

TMEM63A 2512 100% .

TMEM63B 2654 100% .

TMEM63C 2509 100% .

TMEM64 1155 74% .

TMEM65 751 73% .

TMEM66 1044 93% .

TMEM67 3238 100% Joubert Syndrome

TMEM67 3238 100% Meckel Syndrome

TMEM67 3238 100% TMEM67‐Related Joubert Syndrome

TMEM67 3238 100% TMEM67‐Related Meckel Syndrome

TMEM68 790 100% .

TMEM69 752 100% .

TMEM70 803 98% Nuclear‐Encoded ATPase Deficiency, TMEM70‐Related

TMEM71 924 100% .

TMEM72 848 93% .

TMEM74 922 100% .

TMEM74B 779 100%TMEM74B 779 100% .

TMEM79 1256 100% .

TMEM80 671 68% .

TMEM81 772 100% .

TMEM82 1056 97% .

TMEM85 841 89% .

TMEM86A 735 97% .

TMEM86B 693 86% .

TMEM87A 1794 100% .

TMEM87B 1744 99% .

TMEM88 488 100% .

TMEM88B 2 0% .

TMEM89 488 100% .

TMEM8A 2437 93% .





TMEM8B 1696 99% .

TMEM8C 686 100% .

TMEM9 668 100% .

TMEM91 626 100% .

TMEM92 500 100% .

TMEM93 337 99% .

TMEM95 672 100% .

TMEM97 543 100% .

TMEM98 705 100% .

TMEM99 781 100% .

TMEM9B 617 92% .

TMF1 3359 100% .

TMIE 487 81% DFNB 6 Nonsyndromic Hearing Loss and Deafness

TMIE 487 81% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

TMIGD1 813 100% .

TMIGD2 869 98% .

TMLHE 1434 78% .

TMOD1 1116 100% .

TMOD2 1092 100%TMOD2 1092 100% .

TMOD3 1095 100% .

TMOD4 1074 100% .

TMPO 3024 99% Dilated Cardiomyopathy

TMPO 3024 99% TMPO‐Related Dilated Cardiomyopathy

TMPPE 1366 100% .

TMPRSS11A 1306 100% .

TMPRSS11B 1291 100% .

TMPRSS11BNL 334 1% .

TMPRSS11D 1297 100% .

TMPRSS11E 1322 99% .

TMPRSS11F 1357 100% .

TMPRSS12 1068 100% .

TMPRSS13 1859 99% .





TMPRSS15 3160 99% .

TMPRSS2 1532 100% .

TMPRSS3 1547 100% DFNB 8/10 Nonsyndromic Hearing Loss and Deafness

TMPRSS3 1547 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

TMPRSS4 1366 100% .

TMPRSS5 1426 100% .

TMPRSS6 2694 93% Iron‐Refractory Iron Deficiency Anemia

TMPRSS7 2258 100% .

TMPRSS9 3305 95% .

TMSB10 143 100% .

TMSB15A 146 100% .

TMSB15B 2 0% .

TMSB4X 159 100% .

TMSB4Y 143 100% .

TMTC1 2472 100% .

TMTC2 2559 100% .

TMTC3 2797 100% .

TMTC4 2355 100% .

TMUB1 749 100%TMUB1 749 100% .

TMUB2 915 100% .

TMX1 875 100% .

TMX2 1152 100% .

TMX3 1467 98% .

TMX4 1082 83% .

TNC 6714 100% .

TNF 745 96% .

TNFAIP1 975 100% .

TNFAIP2 2009 74% .

TNFAIP3 2405 100% .

TNFAIP6 858 100% .

TNFAIP8 610 99% .

TNFAIP8L1 565 69% .





TNFAIP8L2 559 100% .

TNFAIP8L2‐SCNM1 666 100% .

TNFAIP8L3 891 85% .

TNFRSF10A 1447 98% .

TNFRSF10B 1359 100% .

TNFRSF10C 1208 96% .

TNFRSF10D 1197 100% .

TNFRSF11A 1957 90% Paget Disease of Bone

TNFRSF11A 1957 90% TNFRSF11A‐ Related Autosomal Recessive Osteopetrosis

TNFRSF11B 1226 99% Paget Disease, Juvenile

TNFRSF12A 406 98% .

TNFRSF13B 902 100% Common Variable Immune Deficiency

TNFRSF13C 567 68% Common Variable Immune Deficiency

TNFRSF14 936 94% .

TNFRSF17 567 100% .

TNFRSF18 999 82% .

TNFRSF19 1317 100% .

TNFRSF1A 1408 100% Autosomal Dominant Familial Periodic Fever

TNFRSF1B 1426 93%TNFRSF1B 1426 93% .

TNFRSF21 1992 96% .

TNFRSF25 1324 98% .

TNFRSF4 862 89% .

TNFRSF6B 923 98% .

TNFRSF8 1848 94% .

TNFRSF9 796 100% .

TNFSF10 923 100% .

TNFSF11 974 100% TNFSF11‐Related Autosomal Recessive Osteopetrosis

TNFSF12 778 76% .

TNFSF12‐TNFSF13 1037 82% .

TNFSF13 788 100% .

TNFSF13B 882 100% .

TNFSF14 739 100% .





TNFSF15 918 100% .

TNFSF18 612 100% .

TNFSF4 564 100% .

TNFSF8 722 100% .

TNFSF9 777 97% .

TNIK 4215 100% .

TNIP1 1980 100% .

TNIP2 1314 86% .

TNIP3 1265 82% .

TNK1 2034 93% .

TNK2 3424 98% .

TNKS 4203 100% .

TNKS1BP1 5292 100% .

TNKS2 3609 96% .

TNMD 982 100% .

TNN 3972 100% .

TNNC1 510 100% Familial Hypertrophic Cardiomyopathy

TNNC1 510 100% TNNC1‐Related Dilated Cardiomyopathy

TNNC1 510 100% TNNC1 Related Familial Hypertrophic CardiomyopathyTNNC1 510 100% TNNC1‐Related Familial Hypertrophic Cardiomyopathy

TNNC2 507 100% .

TNNI1 588 100% .

TNNI2 585 100% Arthrogryposis Multiplex Congenita, Distal, Type 2B

TNNI2 585 100% TNNI2‐Related Arthrogryposis Multiplex Congenita, Distal, Type 2B

TNNI3 648 97% Familial Hypertrophic Cardiomyopathy

TNNI3 648 97% Familial Hypertrophic Cardiomyopathy with Wolff‐Parkinson‐White Syndrome, TNNI3‐Related

TNNI3 648 97% Familial Restrictive Cardiomyopathy

TNNI3 648 97% TNNI3‐Related Dilated Cardiomyopathy

TNNI3 648 97% TNNI3‐Related Familial Hypertrophic Cardiomyopathy

TNNI3 648 97% TNNI3‐Related Familial Restrictive Cardiomyopathy

TNNI3K 2627 100% .

TNNT1 921 93% Nemaline Myopathy

TNNT1 921 93% TNNT1‐Related Nemaline Myopathy





TNNT2 964 100% Dilated Cardiomyopathy

TNNT2 964 100% Familial Hypertrophic Cardiomyopathy

TNNT2 964 100% Familial Restrictive Cardiomyopathy

TNNT2 964 100% Left Ventricular Noncompaction 6

TNNT2 964 100% TNNT2‐Related Dilated Cardiomyopathy

TNNT2 964 100% TNNT2‐Related Familial Hypertrophic Cardiomyopathy

TNNT2 964 100% TNNT2‐Related Familial Restrictive Cardiomyopathy

TNNT3 927 99% Arthrogryposis Multiplex Congenita, Distal, Type 2B

TNNT3 927 99% TNNT3‐Related Arthrogryposis Multiplex Congenita, Distal, Type 2B

TNP1 176 100% .

TNP2 425 100% .

TNPO1 2793 99% .

TNPO2 2786 100% .

TNPO3 2997 100% .

TNR 4161 100% .

TNRC18 9155 82% .

TNRC6A 6144 100% .

TNRC6B 5723 97% .

TNRC6C 5266 98%TNRC6C 5266 98% .

TNS1 5327 100% .

TNS3 4468 100% .

TNS4 2276 100% .

TNXB 13252 89% Ehlers‐Danlos Syndrome, Hypermobility Type

TOB1 1042 100% .

TOB2 1039 100% .

TOE1 1599 100% .

TOLLIP 942 86% .

TOM1 1571 98% .

TOM1L1 1491 100% .

TOM1L2 1584 100% .

TOMM20 458 100% .

TOMM20L 479 99% .





TOMM22 445 100% .

TOMM34 958 94% .

TOMM40 1122 77% .

TOMM40L 963 100% .

TOMM5 322 100% .

TOMM6 233 100% .

TOMM7 253 100% .

TOMM70A 1875 94% .

TONSL 4247 88% .

TOP1 2382 100% .

TOP1MT 2208 97% .

TOP2A 4771 100% .

TOP2B 5025 99% .

TOP3A 3082 100% .

TOP3B 2880 89% .

TOPBP1 4677 100% .

TOPORS 3150 100% Retinitis Pigmentosa, Autosomal Dominant

TOPORS 3150 100% TOPORS‐Related Retinitis Pigmentosa

TOR1A 1115 92% Early Onset Primary Dystonia (DYT1)TOR1A 1115 92% Early‐Onset Primary Dystonia (DYT1)

TOR1AIP1 1799 99% .

TOR1AIP2 1430 100% .

TOR1B 1031 100% .

TOR2A 1155 85% .

TOR3A 1267 96% .

TOX 1617 100% .

TOX2 1937 95% .

TOX3 1760 99% .

TOX4 1930 100% .

TP53 1350 100% Li‐Fraumeni Syndrome

TP53AIP1 574 100% .

TP53BP1 6054 100% .

TP53BP2 3478 100% .





TP53I11 625 94% .

TP53I13 1210 89% .

TP53I3 1066 100% .

TP53INP1 761 100% .

TP53INP2 675 99% .

TP53RK 775 79% .

TP53TG3 1149 0% .

TP53TG3B 1300 0% .

TP53TG3C 1300 0% .

TP53TG5 893 100% .

TP63 2264 100% ADULT Syndrome

TP63 2264 100% Ankyloblepharon‐Ectodermal Defects‐Cleft Lip/Palate

TP63 2264 100% Cleft Lip +/‐ Cleft Palate

TP63 2264 100% Ectrodactyly

TP63 2264 100% Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome

TP63 2264 100% Limb‐Mammary Syndrome

TP63 2264 100% Split‐Hand/Foot Malformation, Type 4

TP63 2264 100% TP63‐Related Disorders

TP73 2006 96%TP73 2006 96% .

TPBG 1267 98% .

TPCN1 2930 96% .

TPCN2 2359 94% .

TPD52 811 100% .

TPD52L1 650 98% .

TPD52L2 726 97% .

TPD52L3 511 100% .

TPGS1 881 39% .

TPGS2 958 100% .

TPH1 1375 100% .

TPH2 1535 100% Tryptophan Hydroxylase Deficiency

TPI1 889 100% Triosephosphate Isomerase Deficiency

TPK1 764 100% .





TPM1 1410 83% Dilated Cardiomyopathy

TPM1 1410 83% Familial Hypertrophic Cardiomyopathy

TPM1 1410 83% TPM1‐Related Dilated Cardiomyopathy

TPM1 1410 83% TPM1‐Related Familial Hypertrophic Cardiomyopathy

TPM2 1310 98% Arthrogryposis Multiplex Congenita, Distal, Type 1

TPM2 1310 98% Nemaline Myopathy

TPM2 1310 98% TPM2‐Related Nemaline Myopathy

TPM3 1285 100% Nemaline Myopathy

TPM3 1285 100% TPM3‐Related Congenital Fiber‐Type Disproportion

TPM3 1285 100% TPM3‐Related Nemaline Myopathy

TPM4 1027 87% .

TPMT 770 100% .

TPO 3176 94% Congenital Hypothyroidism

TPO 3176 94% Congenital Hypothyroidism, TPO‐Related

TPP1 1860 100% Neuronal Ceroid‐Lipofuscinoses

TPP1 1860 100% Neuronal Ceroid‐Lipofuscinosis, Classic Late Infantile

TPP1 1860 100% Neuronal Ceroid‐Lipofuscinosis, Juvenile

TPP1 1860 100% TPP1‐Related Neuronal Ceroid‐Lipofuscinosis

TPP2 3866 100%TPP2 3866 100% .

TPPP 672 100% .

TPPP2 525 100% .

TPPP3 543 100% .

TPR 7454 100% .

TPRA1 1165 100% .

TPRG1 848 100% .

TPRG1L 839 74% .

TPRKB 544 100% .

TPRN 2232 62% .

TPRX1 1244 69% .

TPSAB1 869 80% .

TPSB2 849 58% .

TPSD1 752 100% .





TPSG1 990 93% .

TPST1 1129 100% .

TPST2 1375 99% .

TPT1 954 78% .

TPTE 1742 100% .

TPTE2 1653 100% .

TPX2 2308 100% .

TRA2A 881 98% .

TRA2B 910 100% .

TRABD 1167 96% .

TRADD 955 95% .

TRAF1 1279 100% .

TRAF2 1702 100% .

TRAF3 1747 100% .

TRAF3IP1 2181 92% .

TRAF3IP2 1738 100% .

TRAF3IP3 1844 100% .

TRAF4 1462 100% .

TRAF5 1747 100%TRAF5 1747 100% .

TRAF6 1593 100% .

TRAF7 2093 96% .

TRAFD1 1793 100% .

TRAIP 1509 100% .

TRAK1 3463 100% .

TRAK2 2841 100% .

TRAM1 1169 100% .

TRAM1L1 1114 100% .

TRAM2 1157 100% .

TRANK1 8846 100% .

TRAP1 2187 96% .

TRAPPC1 454 100% .

TRAPPC10 3872 98% TRAPPC10‐Related Holoprosencephaly





TRAPPC11 3543 100% .

TRAPPC12 2339 98% .

TRAPPC2 493 100% Spondyloepiphyseal Dysplasia Tarda, X‐Linked

TRAPPC2L 465 99% .

TRAPPC3 563 100% .

TRAPPC4 739 100% .

TRAPPC5 571 88% .

TRAPPC6A 546 97% .

TRAPPC6B 501 100% .

TRAPPC8 4424 100% .

TRAPPC9 3881 95% Mental Retardation, Autosomal Recessive 13

TRAT1 585 100% .

TRDMT1 1279 95% .

TRDN 2396 97% .

TREH 1904 98% .

TREM1 721 100% .

TREM2 897 100% Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy

TREM2 897 100% TREM2‐Related Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy

TREML1 960 100%TREML1 960 100% .

TREML2 1163 100% .

TREML4 623 100% .

TRERF1 3695 100% .

TREX1 1114 100% Aicardi‐Goutieres Syndrome

TREX1 1114 100% Retinal Vasculopathy with Cerebral Leukodystrophy

TREX1 1114 100% TREX1‐Related Aicardi‐Goutieres Syndrome

TREX2 749 84% .

TRH 737 100% .

TRHDE 3151 100% .

TRHR 1205 100% .

TRIAP1 239 100% .

TRIB1 1131 70% .

TRIB2 1044 100% .





TRIB3 1089 100% .

TRIL 2 0% .

TRIM10 1637 96% .

TRIM11 1730 89% .

TRIM13 1241 99% .

TRIM14 1353 98% .

TRIM15 1477 96% .

TRIM16 1763 99% .

TRIM16L 1063 100% .

TRIM17 1609 100% .

TRIM2 2364 100% .

TRIM21 1452 100% .

TRIM22 1525 100% .

TRIM23 1836 100% .

TRIM24 3229 98% .

TRIM25 1929 98% .

TRIM26 1697 97% .

TRIM27 1614 97% .

TRIM28 2576 87%TRIM28 2576 87% .

TRIM29 1803 100% .

TRIM3 2525 100% .

TRIM31 1384 96% .

TRIM32 1966 100% Bardet‐Biedl Syndrome

TRIM32 1966 100% Limb‐Girdle Muscular Dystrophies, Autosomal Recessive

TRIM32 1966 100% Limb‐Girdle Muscular Dystrophy Type 2H

TRIM32 1966 100% TRIM32‐Related Bardet‐Biedl Syndrome

TRIM33 3464 88% .

TRIM34 1572 100% .

TRIM35 1506 97% .

TRIM36 2478 100% .

TRIM37 2999 100% Mulibrey Nanism

TRIM38 1422 100% .





TRIM39 1629 97% .

TRIM39‐RPP21 2134 97% .

TRIM4 1531 92% .

TRIM40 832 96% .

TRIM41 2039 99% .

TRIM42 2192 100% .

TRIM43 1365 56% .

TRIM43B 6 0% .

TRIM44 1055 100% .

TRIM45 1767 100% .

TRIM46 2369 99% .

TRIM47 1941 67% .

TRIM48 695 100% .

TRIM49 1383 90% .

TRIM49L1 2774 7% .

TRIM49L2 1383 85% .

TRIM5 1845 91% .

TRIM50 1488 90% .

TRIM52 902 100%TRIM52 902 100% .

TRIM54 1239 90% .

TRIM55 1779 100% .

TRIM56 2272 94% .

TRIM58 1485 89% .

TRIM59 1219 100% .

TRIM6 1630 100% .

TRIM60 1420 100% .

TRIM61 638 83% .

TRIM62 1448 98% .

TRIM63 1098 100% .

TRIM64 1396 17% .

TRIM64B 1396 100% .

TRIM64C 1338 100% .





TRIM65 1578 70% .

TRIM66 3824 100% .

TRIM67 2392 94% .

TRIM68 1482 100% .

TRIM69 1531 93% .

TRIM6‐TRIM34 2632 100% .

TRIM7 1684 71% .

TRIM71 2623 88% .

TRIM72 1458 79% .

TRIM73 769 66% .

TRIM74 769 66% .

TRIM77P 838 100% .

TRIM8 1680 100% .

TRIM9 2319 100% .

TRIML1 1431 100% .

TRIML2 1192 100% .

TRIO 9522 97% .

TRIOBP 7488 94% DFNB28 Nonsyndromic Hearing Loss and Deafness

TRIOBP 7488 94% Nonsyndromic Hearing Loss and Deafness Autosomal RecessiveTRIOBP 7488 94% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

TRIP10 1838 100% .

TRIP11 6024 100% Achondrogenesis Type IA

TRIP12 6238 100% .

TRIP13 1351 97% .

TRIP4 1798 95% .

TRIP6 1467 94% .

TRIT1 1450 100% .

TRMT1 2044 97% .

TRMT11 1444 99% .

TRMT112 394 100% .

TRMT12 1351 100% .

TRMT1L 2270 100% .

TRMT2A 2027 100% .





TRMT2B 1563 100% .

TRMT5 1550 100% .

TRMT6 1623 100% .

TRMT61A 882 99% .

TRMT61B 1462 100% .

TRMU 1310 94% Liver Failure, Acute Infantile

TRNAU1AP 900 97% .

TRNP1 1 0% .

TRNT1 1333 100% .

TRO 4479 100% .

TROAP 2495 99% .

TROVE2 1706 100% .

TRPA1 3468 100% .

TRPC1 2434 100% .

TRPC3 2814 98% .

TRPC4 2989 100% .

TRPC4AP 2470 98% .

TRPC5 2962 100% .

TRPC6 2848 95% Focal Segmental GlomerulosclerosisTRPC6 2848 95% Focal Segmental Glomerulosclerosis

TRPC6 2848 95% Focal Segmental Glomerulosclerosis 2

TRPC7 2654 100% .

TRPM1 4918 100% Congenital Stationary Night Blindness, Type 1C

TRPM2 4640 97% .

TRPM3 5573 100% .

TRPM4 3745 97% .

TRPM5 3600 89% .

TRPM6 6347 100% Hypomagnesemia with Secondary Hypocalcemia

TRPM7 5754 100% .

TRPM8 3609 100% .

TRPS1 3909 100% Langer‐Giedion Syndrome

TRPS1 3909 100% Trichorhinophalangeal Syndrome Type I

TRPS1 3909 100% Trichorhinophalangeal Syndrome Type III





TRPT1 793 94% .

TRPV1 2646 100% .

TRPV2 2351 99% .

TRPV3 2455 100% .

TRPV4 2676 99% Brachyolmia Type 2

TRPV4 2676 99% Brachyolmia Type 3

TRPV4 2676 99% Charcot‐Marie‐Tooth Neuropathy Type 2

TRPV4 2676 99% Charcot‐Marie‐Tooth Neuropathy Type 2C

TRPV4 2676 99% Distal Congenital Nonprogressive Spinal Muscular Atrophy

TRPV4 2676 99% Metatropic Dysplasia

TRPV4 2676 99% Scapuloperoneal Spinal Muscular Atrophy

TRPV4 2676 99% Spondylometaphyseal Dysplasia, Kozlowski Type

TRPV5 2274 100% .

TRPV6 2245 100% .

TRRAP 11921 100% .

TRUB1 1082 100% .

TRUB2 1028 100% .

TSC1 3651 100% Tuberous Sclerosis 1

TSC1 3651 100% Tuberous Sclerosis ComplexTSC1 3651 100% Tuberous Sclerosis Complex

TSC2 5617 96% Tuberous Sclerosis 2

TSC2 5617 96% Tuberous Sclerosis Complex

TSC22D1 3364 99% .

TSC22D2 2359 100% .

TSC22D3 867 100% .

TSC22D4 1273 99% .

TSEN15 556 79% .

TSEN2 1481 100% Pontocerebellar Hypoplasia Type 2 and Type 4

TSEN2 1481 100% TSEN2‐Related Pontocerebellar Hypoplasia









TSFM 1070 94% Combined Oxidative Phosphorylation Deficiency

TSFM 1070 94% Combined Oxidative Phosphorylation Deficiency 3

TSG101 1213 100% .

TSGA10 2165 100% .

TSGA10IP 272 98% .

TSGA13 856 100% .

TSHB 425 100% .

TSHR 2409 100% Congenital Hypothyroidism

TSHR 2409 100% Congenital Hypothyroidism, Nongoitrous 1

TSHR 2409 100% Hyperthyroidism, Nonautoimmune

TSHR 2409 100% Hyperthyroidism, Nonautoimmune (316270)

TSHZ1 3103 100% .

TSHZ2 3114 99% .

TSHZ3 3254 99% .

TSKS 1823 100% .

TSKU 1066 98% .

TSLP 496 100% .

TSN 711 100% .

TSNARE1 1632 98%TSNARE1 1632 98% .

TSNAX 918 100% .

TSNAXIP1 2048 100% .

TSPAN1 754 100% .

TSPAN10 1084 92% .

TSPAN11 790 100% .

TSPAN12 946 100% .

TSPAN13 639 100% .

TSPAN14 874 97% .

TSPAN15 917 91% .

TSPAN16 799 93% .

TSPAN17 1640 100% .

TSPAN18 775 100% .

TSPAN19 779 98% .





TSPAN2 698 97% .

TSPAN3 790 91% .

TSPAN31 831 97% .

TSPAN32 1043 100% .

TSPAN33 884 94% .

TSPAN4 762 100% .

TSPAN5 839 100% .

TSPAN6 766 100% .

TSPAN7 778 98% X‐Linked Mental Retardation 58

TSPAN8 746 100% .

TSPAN9 916 85% .

TSPEAR 2069 99% .

TSPO 602 64% .

TSPO2 525 100% .

TSPY1 951 91% .

TSPY2 962 64% .

TSPY3 1924 22% .

TSPY4 3364 17% .

TSPY8 962 26%TSPY8 962 26% .

TSPYL1 1318 100% .

TSPYL2 2448 92% .

TSPYL4 1399 100% .

TSPYL5 1258 97% .

TSPYL6 1237 100% .

TSR1 2475 100% .

TSR2 596 96% .

TSSC1 1200 97% .

TSSC4 994 99% .

TSSK1B 1108 100% .

TSSK2 1084 100% .

TSSK3 815 100% .

TSSK4 1233 100% .





TSSK6 826 100% .

TST 902 99% .

TSTA3 1091 96% .

TSTD1 485 88% .

TSTD2 1721 100% .

TTBK1 4022 88% .

TTBK2 3823 100% Spinocerebellar Ataxia Type11

TTC1 907 100% .

TTC12 2202 100% .

TTC13 2675 90% .

TTC14 2441 100% .

TTC16 2848 100% .

TTC17 3594 100% .

TTC18 3483 98% .

TTC19 1546 75% .

TTC21A 4296 100% .

TTC21B 4068 100% .

TTC22 1841 73% .

TTC23 1608 100%TTC23 1608 100% .

TTC23L 1122 100% .

TTC24 1789 88% .

TTC25 1882 100% .

TTC26 1763 100% .

TTC27 2612 100% .

TTC28 7538 96% .

TTC29 1487 100% .

TTC3 6258 100% .

TTC30A 2002 100% .

TTC30B 2002 100% .

TTC31 1683 99% .

TTC32 468 100% .

TTC33 805 100% .





TTC34 1729 51% .

TTC35 938 100% .

TTC36 582 54% .

TTC37 4855 100% .

TTC38 1466 98% .

TTC39A 2278 96% .

TTC39B 2188 96% .

TTC39C 1809 90% .

TTC4 1328 100% .

TTC40 8714 90% .

TTC5 1363 100% .

TTC7A 2657 93% .

TTC7B 2612 100% .

TTC8 1608 100% Bardet‐Biedl Syndrome

TTC8 1608 100% Retinitis Pigmentosa, Autosomal Recessive

TTC8 1608 100% TTC8‐Related Bardet‐Biedl Syndrome

TTC8 1608 100% TTC8‐Related Retinitis Pigmentosa

TTC9 681 73% .

TTC9B 732 92%TTC9B 732 92% .

TTC9C 554 100% .

TTF1 2758 100% .

TTF2 3581 100% .

TTI1 3298 100% .

TTI2 1555 100% .

TTK 2658 100% .

TTL 1162 100% .

TTLL1 1308 100% .

TTLL10 2107 81% .

TTLL11 2517 76% .

TTLL12 1991 89% .

TTLL13 1416 100% .

TTLL2 1791 99% .





TTLL3 2575 100% .

TTLL4 3672 100% .

TTLL5 3970 100% .

TTLL6 2906 100% .

TTLL7 2744 100% .

TTLL9 1410 100% .

TTN 111745 100% Dilated Cardiomyopathy

TTN 111745 100% Early‐Onset Myopathy with Fatal Cardiomyopathy

TTN 111745 100% Familial Hypertrophic Cardiomyopathy

TTN 111745 100% Hereditary Myopathy with Early Respiratory Failure

TTN 111745 100% Limb‐Girdle Muscular Dystrophies, Autosomal Recessive

TTN 111745 100% Limb‐Girdle Muscular Dystrophy Type 2J

TTN 111745 100% TTN‐Related Dilated Cardiomyopathy

TTN 111745 100% TTN‐Related Familial Hypertrophic Cardiomyopathy

TTN 111745 100% Udd Distal Myopathy

TTPA 857 79% Ataxia with Vitamin E Deficiency

TTPAL 1045 100% .

TTR 481 100% Familial Transthyretin Amyloidosis

TTYH1 1488 91%TTYH1 1488 91% .

TTYH2 1661 100% .

TTYH3 1741 82% .

TUB 1780 100% .

TUBA1A 1372 100% Lissencephaly 3

TUBA1B 1372 100% .

TUBA1C 1472 100% .

TUBA3C 1373 100% .

TUBA3D 1373 100% .

TUBA3E 1373 100% .

TUBA4A 1363 99% .

TUBA8 1445 100% .

TUBAL3 1361 100% .

TUBB 1379 98% .





TUBB1 1372 100% .

TUBB2A 1354 88% .

TUBB2B 1354 89% Polymicrogyria, Asymmetric

TUBB3 1369 100% Congenital Fibrosis of the Extraocular Muscles

TUBB3 1369 100% TUBB3‐Related Congenital Fibrosis of the Extraocular Muscles

TUBB4A 1351 100% .

TUBB4B 1354 100% .

TUBB6 1357 100% .

TUBB8 1517 100% .

TUBD1 1407 100% .

TUBE1 1520 93% .

TUBG1 1400 96% .

TUBG2 1400 97% .

TUBGCP2 2777 99% .

TUBGCP3 2812 100% .

TUBGCP4 2076 100% .

TUBGCP5 3214 99% .

TUBGCP6 5619 100% .

TUFM 1408 98% Combined Oxidative Phosphorylation DeficiencyTUFM 1408 98% Combined Oxidative Phosphorylation Deficiency

TUFM 1408 98% Combined Oxidative Phosphorylation Deficiency 4

TUFM 1408 98% Combined Oxidative Phosphorylation Deficiency 4 (319007)

TUFT1 1225 94% .

TULP1 1704 92% Leber Congenital Amaurosis

TULP1 1704 92% Retinitis Pigmentosa, Autosomal Recessive

TULP1 1704 92% TULP1‐Related Leber Congenital Amaurosis

TULP1 1704 92% TULP1‐Related Retinitis Pigmentosa

TULP2 1611 100% .

TULP3 1377 98% .

TULP4 4688 100% .

TUSC1 643 60% .

TUSC2 345 70% .

TUSC3 1107 100% Mental Retardation, Autosomal Recessive 7





TUSC5 546 100% .

TUT1 2853 100% .

TWF1 1218 89% .

TWF2 1086 99% .

TWIST1 613 67% Saethre‐Chotzen Syndrome

TWIST2 487 45% .

TWISTNB 1033 100% .

TWSG1 688 100% .

TXK 1660 100% .

TXLNA 1681 100% .

TXLNB 2275 100% .

TXLNG 1627 93% .

TXN 338 99% .

TXN2 513 100% .

TXNDC11 2925 95% .

TXNDC12 547 100% .

TXNDC15 1103 100% .

TXNDC16 2554 100% .

TXNDC17 388 100%TXNDC17 388 100% .

TXNDC2 1670 100% .

TXNDC3 1827 100% Primary Ciliary Dyskinesia

TXNDC3 1827 100% Primary Ciliary Dyskinesia 6: TXNDC3‐Related Primary Ciliary Dyskinesia

TXNDC5 1339 83% .

TXNDC8 372 100% .

TXNDC9 737 100% .

TXNIP 1293 100% .

TXNL1 902 100% .

TXNL4A 441 100% .

TXNL4B 462 100% .

TXNRD1 2195 95% .

TXNRD2 1643 88% .

TXNRD3 2196 81% .





TXNRD3NB 410 100% .

TYK2 3656 97% Familial Atypical Mycobacteriosis, TYK2‐Related

TYMP 1877 79% Mitochondrial Neurogastrointestinal Encephalopathy Disease

TYMS 1270 83% .

TYR 1610 100% Oculocutaneous Albinism Type 1

TYRO3 2749 95% .

TYROBP 362 100% Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy

TYROBP 362 100% TYROBP‐Related Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy

TYRP1 1646 100% Oculocutaneous Albinism Type 3

TYSND1 1717 68% .

TYW1 2263 100% .

TYW1B 16 0% .

TYW3 804 100% .

TYW5 980 100% .

U2AF1 826 100% .

U2AF1L4 1023 84% .

U2AF2 1476 100% .

U2SURP 3226 100% .

UACA 4370 98%UACA 4370 98% .

UAP1 1554 100% .

UAP1L1 1685 80% .

UBA1 3560 99% Spinal Muscular Atrophy, X‐Linked Infantile

UBA2 1991 100% .

UBA3 1464 99% .

UBA5 1263 90% .

UBA52 403 100% .

UBA6 3369 100% .

UBA7 3135 99% .

UBAC1 1258 99% .

UBAC2 1231 99% .

UBAP1 1534 100% .

UBAP1L 5 0% .





UBAP2 3674 100% .

UBAP2L 3652 100% .

UBASH3A 2046 95% .

UBASH3B 2006 98% .

UBB 694 100% .

UBC 2062 97% .

UBD 518 98% .

UBE2A 483 100% .

UBE2B 483 86% .

UBE2C 715 86% .

UBE2CBP 1210 100% .

UBE2D1 472 97% .

UBE2D2 472 100% .

UBE2D3 579 100% .

UBE2D4 564 100% .

UBE2E1 661 100% .

UBE2E2 626 100% .

UBE2E3 712 100% .

UBE2F 627 100%UBE2F 627 100% .

UBE2G1 533 100% .

UBE2G2 549 92% .

UBE2H 599 100% .

UBE2I 643 100% .

UBE2J1 989 99% .

UBE2J2 860 94% .

UBE2K 631 100% .

UBE2L3 5405 9% .

UBE2L6 478 100% .

UBE2M 576 100% .

UBE2N 475 100% .

UBE2NL 466 100% .

UBE2O 3951 94% .





UBE2Q1 1321 89% .

UBE2Q2 1345 96% .

UBE2QL1 494 100% .

UBE2R2 737 100% .

UBE2S 685 99% .

UBE2T 618 100% .

UBE2U 717 100% .

UBE2V1 555 99% .

UBE2V2 454 100% .

UBE2W 517 98% .

UBE2Z 1093 71% .

UBE3A 2696 100% Angelman Syndrome

UBE3B 3311 100% .

UBE3C 3380 100% .

UBE4A 3298 100% .

UBE4B 4033 100% .

UBFD1 1630 99% .

UBIAD1 1025 100% Schnyder Crystalline Corneal Dystrophy

UBL3 374 100%UBL3 374 100% .

UBL4A 594 77% .

UBL4B 529 100% .

UBL5 238 100% .

UBL7 1183 94% .

UBLCP1 997 100% .

UBN1 3473 100% .

UBN2 4120 93% .

UBOX5 1642 100% .

UBP1 1687 100% .

UBQLN1 1814 100% .

UBQLN2 1879 98% .

UBQLN3 1972 100% .

UBQLN4 1850 99% .





UBQLNL 1432 100% .

UBR1 5438 100% .

UBR2 5613 99% .

UBR3 5837 97% .

UBR4 16435 100% .

UBR5 8636 99% .

UBR7 1322 90% .

UBTD1 696 90% .

UBTD2 717 90% .

UBTF 2375 99% .

UBTFL1 1186 88% .

UBXN1 1092 100% .

UBXN10 847 100% .

UBXN11 1636 97% .

UBXN2A 804 100% .

UBXN2B 1028 91% .

UBXN4 1653 100% .

UBXN6 1370 100% .

UBXN7 1514 100%UBXN7 1514 100% .

UBXN8 844 100% .

UCHL1 773 87% Parkinson Disease

UCHL3 729 100% .

UCHL5 1126 100% .

UCK1 904 88% .

UCK2 814 91% .

UCKL1 1841 92% .

UCMA 437 100% .

UCN 379 56% .

UCN2 343 94% .

UCN3 490 100% .

UCP1 948 100% .

UCP2 954 100% .





UCP3 967 100% .

UEVLD 1464 100% .

UFC1 528 100% .

UFD1L 1071 100% .

UFL1 2461 100% .

UFM1 338 100% .

UFSP1 433 100% .

UFSP2 1464 100% .

UGCG 1221 96% .

UGDH 1536 100% .

UGGT1 4915 98% .

UGGT2 4707 98% .

UGP2 1568 100% .

UGT1A1 1622 100% Crigler‐Najjar Syndrome

UGT1A1 1622 100% Gilbert Syndrome

UGT1A10 1613 100% .

UGT1A3 1625 100% .

UGT1A4 1625 100% .

UGT1A5 1625 100%UGT1A5 1625 100% .

UGT1A6 1619 100% .

UGT1A7 1613 100% .

UGT1A8 1613 100% .

UGT1A9 1613 100% .

UGT2A1 2378 94% .

UGT2A2 1523 100% .

UGT2A3 1614 100% .

UGT2B10 2929 100% .

UGT2B11 1614 100% .

UGT2B15 1623 100% .

UGT2B17 1623 100% .

UGT2B28 1614 100% .

UGT2B4 1611 100% .





UGT2B7 1614 100% .

UGT3A1 1778 100% .

UGT3A2 1600 100% .

UGT8 1646 100% .

UHMK1 1293 100% .

UHRF1 2484 100% .

UHRF1BP1 4419 99% .

UHRF1BP1L 4503 100% .

UHRF2 2473 100% .

UIMC1 2231 100% .

ULBP1 751 100% .

ULBP2 757 100% .

ULBP3 770 100% .

ULK1 3265 97% .

ULK2 3227 100% .

ULK3 1515 86% .

ULK4 3972 100% .

UMOD 1963 89% Familial Juvenile Hyperuricemic Nephropathy Type 1

UMOD 1963 89% UMOD Associated Kidney DiseaseUMOD 1963 89% UMOD‐Associated Kidney Disease

UMODL1 4721 100% .

UMPS 1514 100% Oroticaciduria

UNC119 796 88% UNC119‐Related Cone‐Rod Dystrophy

UNC119B 776 68% .

UNC13A 5310 96% .

UNC13B 4935 99% .

UNC13C 6763 100% .

UNC13D 3401 97% Familial Hemophagocytic Lymphohistiocytosis

UNC13D 3401 97% Familial Hemophagocytic Lymphohistiocytosis 3

UNC45A 3206 97% .

UNC45B 2872 100% .

UNC50 874 100% .

UNC5A 2589 97% .





UNC5B 2906 99% .

UNC5C 2865 100% .

UNC5CL 1589 100% .

UNC5D 2930 96% .

UNC79 7648 100% .

UNC80 10037 98% .

UNC93A 1406 100% .

UNC93B1 1837 77% .

UNCX 1608 34% .

UNG 1075 95% Immunodeficiency with Hyper‐IgM, Type 5

UNK 2650 100% .

UNKL 2450 71% .

UPB1 1195 100% Beta‐Ureidopropionase Deficiency

UPF1 3588 99% .

UPF2 3903 100% .

UPF3A 1471 80% .

UPF3B 1496 100% Mental Retardation, X‐linked, Syndromic 14

UPK1A 805 100% .

UPK1B 811 100%UPK1B 811 100% .

UPK2 575 100% .

UPK3A 888 94% .

UPK3B 1063 87% .

UPK3BL 816 10% .

UPP1 963 100% .

UPP2 1161 92% .

UPRT 981 100% .

UQCC 1033 100% .

UQCR10 467 100% .

UQCR11 179 82% .

UQCRB 353 100% Mitochondrial Respiratory Chain Complex III Deficiency, UQCRB‐Related

UQCRC1 1550 96% .

UQCRC2 1418 100% .





UQCRFS1 833 74% .

UQCRH 292 100% .

UQCRHL 1 0% .

UQCRQ 257 100% Mitochondrial Respiratory Chain Complex III Deficiency, UQCRQ Related

URB1 6972 93% .

URB2 4611 100% .

URGCP 2820 99% .

URGCP‐MRPS24 380 77% .

URI1 1714 97% .

URM1 575 100% .

UROC1 2295 96% .

UROD 1144 100% Porphyria Cutanea Tarda

UROS 842 100% Congenital Erythropoietic Porphyria

USE1 826 100% .

USF1 973 100% .

USF2 1081 73% .

USH1C 2889 99% DFNB18 Nonsyndromic Hearing Loss and Deafness

USH1C 2889 99% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

USH1C 2889 99% Usher Syndrome Type 1USH1C 2889 99% Usher Syndrome Type 1

USH1C 2889 99% Usher Syndrome Type 1C

USH1G 1398 93% Usher Syndrome Type 1

USH1G 1398 93% Usher Syndrome Type 1G

USH2A 15913 100% Retinitis Pigmentosa, Autosomal Recessive

USH2A 15913 100% USH2A‐Related Retinitis Pigmentosa

USH2A 15913 100% Usher Syndrome Type 2

USH2A 15913 100% Usher Syndrome Type 2A

USHBP1 2164 96% .

USMG5 185 100% .

USO1 2760 100% .

USP1 2391 100% .

USP10 2453 99% .

USP11 2977 100% .





USP12 1149 100% .

USP13 2676 95% .

USP14 1768 100% .

USP15 3075 97% .

USP16 2540 100% .

USP17 12777 8% .

USP17L2 1597 100% .

USP17L5 12776 2% .

USP18 1159 95% .

USP19 4491 100% .

USP2 2018 90% .

USP20 2837 96% .

USP21 1751 100% .

USP22 1834 87% .

USP24 8135 99% .

USP25 3264 99% .

USP26 2746 100% .

USP27X 1 0% .

USP28 3334 98%USP28 3334 98% .

USP29 2773 100% .

USP3 1623 100% .

USP30 1606 99% .

USP31 4208 91% .

USP32 4951 100% .

USP33 2937 98% .

USP34 10965 100% .

USP35 3101 86% .

USP36 3613 97% .

USP37 3032 100% .

USP38 3217 100% .

USP39 1770 99% .

USP4 3231 92% .





USP40 3951 94% .

USP42 4015 99% .

USP43 3534 88% .

USP44 2159 100% .

USP45 2539 100% .

USP46 1156 98% .

USP47 3972 99% .

USP48 3291 97% .

USP49 1939 100% .

USP5 2657 100% .

USP50 1058 100% .

USP51 2140 97% .

USP53 3282 100% .

USP54 5143 100% .

USP6 4337 100% .

USP6NL 2603 100% .

USP7 3433 98% .

USP8 3439 100% .

USP9X 7889 100%USP9X 7889 100% .

USP9Y 7844 100% Y Chromosome Infertility

USPL1 3311 100% .

UST 1253 94% .

UTF1 1034 29% .

UTP11L 794 100% .

UTP14A 2376 100% .

UTP14C 2305 100% .

UTP15 1605 100% .

UTP18 1738 98% .

UTP20 8606 99% .

UTP23 762 100% .

UTP3 1444 100% .

UTP6 1870 100% .





UTRN 10602 100% .

UTS2 520 100% .

UTS2D 380 100% .

UTS2R 1174 86% .

UTY 4433 95% .

UVRAG 2160 91% .

UXS1 1398 93% .

UXT 633 100% .

VAC14 2425 100% .

VAMP1 796 67% .

VAMP2 371 98% .

VAMP3 323 100% .

VAMP4 454 100% .

VAMP5 363 98% .

VAMP7 888 99% .

VAMP8 315 99% .

VANGL1 1603 100% Caudal Dysgenesis Syndrome

VANGL1 1603 100% VANGL1‐Related Neural Tube Defect

VANGL2 1594 100%VANGL2 1594 100% .

VAPA 913 100% .

VAPB 756 98% Amyotrophic Lateral Sclerosis

VAPB 756 98% Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant

VAPB 756 98% VAPB‐Related Amyotrophic Lateral Sclerosis

VARS 4063 96% .

VARS2 3469 94% .

VASH1 1211 92% .

VASH2 1096 96% .

VASN 2026 97% .

VASP 1195 91% .

VAT1 1206 93% .

VAT1L 1296 96% .

VAV1 2646 94% .





VAV2 2757 99% .

VAV3 2677 100% .

VAX1 1157 77% Anophthalmia/Microphthalmia

VAX2 885 72% .

VBP1 618 87% .

VCAM1 2256 100% .

VCAN 10336 100% Erosive Vitreoretinopathy

VCAN 10336 100% VCAN‐Related Vitreoretinopathy

VCAN 10336 100% Wagner Syndrome

VCL 3598 99% Dilated Cardiomyopathy

VCL 3598 99% VCL‐Related Dilated Cardiomyopathy

VCP 2489 99% Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia

VCP 2489 99% VCP‐Related Amyotrophic Lateral Sclerosis

VCPIP1 3681 100% .

VCX 726 92% .

VCX2 486 90% .

VCX3A 569 82% .

VCX3B 846 87% .

VCY 772 0%VCY 772 0% .

VCY1B 772 0% .

VDAC1 885 100% .

VDAC2 1001 100% .

VDAC3 884 100% .

VDR 1318 100% Osteoporosis

VDR 1318 100% Vitamin D‐Dependent Rickets Type II

VEGFA 1297 80% .

VEGFB 696 87% .

VEGFC 1291 100% .

VENTX 789 100% .

VEPH1 2668 100% .

VEZF1 1590 98% .

VEZT 2398 100% .





VGF 1852 91% .

VGLL1 793 100% .

VGLL2 970 69% .

VGLL3 997 100% .

VGLL4 1034 88% .

VHL 654 85% Familial Erythrocytosis 2

VHL 654 85% Von Hippel‐Lindau Syndrome

VHLL 1 0% .

VIL1 2724 100% .

VILL 2729 100% .

VIM 1514 99% .

VIP 533 100% .

VIPR1 1426 84% .

VIPR2 1794 82% .

VIT 2267 100% .

VKORC1 565 100% Vitamin K‐Dependent Clotting Factors, Combined Deficiency of, 2

VKORC1L1 656 98% .

VLDLR 2848 95% VLDLR‐Associated Cerebellar Hypoplasia

VMA21 318 82%VMA21 318 82% .

VMAC 518 59% .

VMO1 655 100% .

VMP1 1265 100% .

VN1R1 1066 100% .

VN1R2 1192 88% .

VN1R4 910 100% .

VN1R5 1 0% .

VNN1 1570 100% .

VNN2 1591 100% .

VOPP1 539 95% .

VPRBP 4463 100% .

VPREB1 457 100% .

VPREB3 386 100% .





VPS11 2979 100% .

VPS13A 9959 100% Chorea‐acanthocytosis

VPS13B 12507 99% Cohen Syndrome

VPS13C 11630 100% .

VPS13D 13443 100% .

VPS16 2741 98% .

VPS18 2942 97% .

VPS25 555 100% .

VPS26A 1020 99% .

VPS26B 1035 100% .

VPS28 816 94% .

VPS29 581 100% .

VPS33A 1843 100% .

VPS33B 1946 97% Arthrogryposis, Renal Dysfunction, and Cholestasis 1

VPS35 2459 100% .

VPS36 1259 100% .

VPS37A 1238 94% .

VPS37B 874 100% .

VPS37C 1084 73%VPS37C 1084 73% .

VPS37D 772 56% .

VPS39 2728 99% .

VPS41 2699 100% .

VPS45 1773 100% .

VPS4A 1358 99% .

VPS4B 1379 100% .

VPS52 2384 96% .

VPS53 2602 100% .

VPS54 3022 100% .

VPS72 1152 100% .

VPS8 4486 100% .

VRK1 1239 100% Pontocerebellar Hypoplasia Type 1

VRK2 1593 99% .





VRK3 1473 100% .

VRTN 2113 100% .

VSIG1 1304 100% .

VSIG10 1659 99% .

VSIG10L 1342 71% .

VSIG2 1016 100% .

VSIG4 1236 100% .

VSIG8 1273 81% .

VSNL1 588 100% .

VSTM1 785 100% .

VSTM2A 832 100% .

VSTM2B 878 60% .

VSTM2L 636 71% .

VSTM4 1118 95% .

VSTM5 660 86% .

VSX1 1313 59% Keratoconus 1

VSX2 1106 71% Anophthalmia/Microphthalmia

VSX2 1106 71% VSX2‐Related Isolated Microphthalmia

VTA1 956 100%VTA1 956 100% .

VTCN1 922 100% .

VTI1A 686 100% .

VTI1B 723 100% .

VTN 1469 100% .

VWA1 1350 64% .

VWA2 2222 100% .

VWA3A 3734 100% .

VWA3B 4244 100% .

VWA5A 2442 100% .

VWA5B1 3750 98% .

VWA5B2 3844 85% .

VWA7 2848 90% .

VWC2 990 57% .





VWC2L 681 100% .

VWCE 2952 94% .

VWDE 5078 99% .

VWF 8700 96% von Willebrand Disease

WAC 2000 100% .

WAPAL 3667 100% .

WARS 1456 100% .

WARS2 1136 100% .

WAS 1557 97% WAS‐Related Disorders

WAS 1557 97% Wiskott‐Aldrich Syndrome

WASF1 1712 100% .

WASF2 1529 100% .

WASF3 1541 100% .

WASH1 10 0% .

WASL 1562 100% .

WBP1 826 100% .

WBP11 1970 100% .

WBP2 1062 85% .

WBP2NL 954 100%WBP2NL 954 100% .

WBP4 1171 100% .

WBP5 319 100% .

WBSCR16 1439 47% .

WBSCR17 1841 100% .

WBSCR22 1199 100% .

WBSCR27 758 100% .

WBSCR28 810 100% .

WDFY1 1281 100% .

WDFY2 1251 100% .

WDFY3 10884 100% .

WDFY4 10198 98% .

WDHD1 3490 100% .

WDPCP 2488 98% WDPCP‐Related Bardet‐Biedl Syndrome





WDR1 1956 100% .

WDR11 3793 100% .

WDR12 1324 100% .

WDR13 1494 99% .

WDR16 1919 100% .

WDR17 4137 100% .

WDR18 1339 89% .

WDR19 4178 100% .

WDR20 1949 100% .

WDR24 2515 90% .

WDR25 1659 100% .

WDR26 2107 99% .

WDR27 3004 97% .

WDR3 2936 100% .

WDR31 1140 100% .

WDR33 4504 100% .

WDR34 1790 95% .

WDR35 3694 100% .

WDR36 2981 100% Primary Open Angle Glaucoma (Adult Onset)WDR36 2981 100% Primary Open Angle Glaucoma (Adult Onset)

WDR37 1564 100% .

WDR38 981 95% .

WDR4 1283 89% .

WDR41 1444 100% .

WDR43 2106 100% .

WDR44 2829 100% .

WDR45 1232 99% .

WDR45L 1075 99% .

WDR46 1957 97% .

WDR47 2844 100% .

WDR48 2153 100% .

WDR49 2248 100% .

WDR5 1057 100% .





WDR52 5736 100% .

WDR53 1085 100% .

WDR54 1049 100% .

WDR55 1256 100% .

WDR59 3076 100% .

WDR5B 997 100% .

WDR6 3502 100% .

WDR60 3301 95% .

WDR61 958 100% .

WDR62 4700 97% Microcephaly, Cortical Malformations, and Mental Retardation

WDR63 2764 100% .

WDR64 3354 100% .

WDR65 4028 100% .

WDR66 3593 100% .

WDR67 3289 99% .

WDR69 1300 100% .

WDR7 4585 100% .

WDR70 2037 100% .

WDR72 3385 100% Amelogenesis Imperfecta Hypomaturation Type IIA3WDR72 3385 100% Amelogenesis Imperfecta, Hypomaturation Type, IIA3

WDR73 1323 100% .

WDR74 1289 100% .

WDR75 2577 97% .

WDR76 1933 100% .

WDR77 1105 93% .

WDR78 2695 100% .

WDR81 5928 92% .

WDR82 978 100% .

WDR83 984 100% .

WDR83OS 337 100% .

WDR85 1395 89% .

WDR86 1655 54% .

WDR87 8759 100% .





WDR88 1463 100% .

WDR89 1168 100% .

WDR90 5925 89% .

WDR91 2361 100% .

WDR92 1107 100% .

WDR93 2125 100% .

WDR96 5193 100% .

WDSUB1 1471 100% .

WDTC1 2245 100% .

WDYHV1 642 87% .

WEE1 1985 79% .

WEE2 1752 100% .

WFDC1 687 72% .

WFDC10A 248 100% .

WFDC10B 463 100% .

WFDC11 276 100% .

WFDC12 348 100% .

WFDC13 294 100% .

WFDC2 457 98%WFDC2 457 98% .

WFDC3 720 100% .

WFDC5 691 98% .

WFDC6 325 100% .

WFDC8 750 100% .

WFDC9 282 100% .

WFIKKN1 1655 99% .

WFIKKN2 1739 100% .

WFS1 2737 94% DFNA 6/14/38 Nonsyndromic Hearing Loss and Deafness

WFS1 2737 94% DFNA6/14/38 Nonsyndromic Low Frequency Sensorineural Hearing Loss

WFS1 2737 94% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

WFS1 2737 94% WFS1‐Related Disorders

WFS1 2737 94% Wolfram Syndrome

WFS1 2737 94% Wolfram Syndrome‐Like Disease





WHAMM 2470 87% .

WHSC1 4439 100% .

WHSC1L1 4493 100% .

WHSC2 1679 93% .

WIBG 784 75% .

WIF1 1180 89% .

WIPF1 1649 100% .

WIPF2 1351 100% .

WIPF3 1508 83% .

WIPI1 1393 94% .

WIPI2 1614 96% .

WISP1 1149 100% .

WISP2 928 99% .

WISP3 1145 100% Progressive Pseudorheumatoid Arthropathy of Childhood

WIZ 2413 99% .

WLS 1805 100% .

WNK1 7292 100% Hereditary Sensory and Autonomic Neuropathy Type II

WNK1 7292 100% Hereditary Sensory and Autonomic Neuropathy Type IIA

WNK1 7292 100% Pseudohypoaldosteronism Type IIWNK1 7292 100% Pseudohypoaldosteronism, Type II

WNK1 7292 100% Pseudohypoaldosteronism, Type IIC

WNK2 6988 94% .

WNK3 5495 99% .

WNK4 3955 99% Pseudohypoaldosteronism, Type II

WNK4 3955 99% Pseudohypoaldosteronism, Type IIB

WNT1 1129 82% .

WNT10A 1270 97% Odontoonychodermal Dysplasia

WNT10A 1270 97% Schopf‐Schulz‐Passarge Syndrome

WNT10B 1190 95% .

WNT11 1085 74% .

WNT16 1198 100% .

WNT2 1103 100% .

WNT2B 1331 100% .





WNT3 1084 97% Tetra‐Amelia Syndrome

WNT3A 1075 100% .

WNT4 1076 92% 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis

WNT4 1076 92% Mullerian Aplasia And Hyperandrogenism

WNT4 1076 92% WNT4‐Related 46,XY DSD and 46,XY CGD

WNT5A 1216 100% .

WNT5B 1096 100% .

WNT6 1114 73% .

WNT7A 1066 100% Absence of Ulna and Fibula with Severe Limb Deficiency

WNT7B 1066 100% .

WNT8A 1168 100% .

WNT8B 1080 99% .

WNT9A 1114 90% .

WNT9B 1229 94% .

WRAP53 1944 94% .

WRAP73 1499 100% .

WRB 545 100% .

WRN 4435 100% Werner Syndrome

WRNIP1 2026 82%WRNIP1 2026 82% .

WSB1 1407 100% .

WSB2 1251 99% .

WSCD1 1760 97% .

WSCD2 1730 100% .

WT1 1608 77% Aniridia‐Wilms Tumor Contiguous Gene Deletion Syndrome

WT1 1608 77% Denys‐Drash Syndrome

WT1 1608 77% Diffuse Mesangial Sclerosis Syndromes (DMS)

WT1 1608 77% Frasier Syndrome

WT1 1608 77% Isolated Diffuse Mesangial Sclerosis

WT1 1608 77% Wilms Tumor

WT1 1608 77% Wilms Tumor‐Aniridia‐Genital Anomalies‐Retardation Syndrome

WT1 1608 77% WT1‐Related Disorders

WTAP 1223 100% .





WTH3DI 1 0% .

WTIP 1433 46% .

WWC1 3452 98% .

WWC2 3811 96% .

WWC3 3374 99% .

WWOX 1680 95% .

WWP1 2861 100% .

WWP2 2705 100% .

WWTR1 1227 100% .

XAB2 2644 100% .

XAF1 995 100% .

XAGE1A 1600 0% .

XAGE1B 1600 0% .

XAGE1C 1600 0% .

XAGE1D 1600 0% .

XAGE1E 1600 0% .

XAGE2 704 0% .

XAGE2B 704 0% .

XAGE3 352 100%XAGE3 352 100% .

XAGE5 343 100% .

XBP1 1192 89% .

XCL1 357 100% .

XCL2 357 100% .

XCR1 1006 100% .

XDH 4146 100% Xanthinuria, Type I

XG 635 99% .

XIAP 1518 100% Lymphoproliferative Disease, X‐Linked

XIAP 1518 100% XIAP‐Related Lymphoproliferative Disease, X‐Linked

XIRP1 5536 100% .

XIRP2 12339 100% .

XK 1347 99% McLeod Neuroacanthocytosis Syndrome

XKR3 1392 71% .





XKR4 1965 100% .

XKR5 2090 97% .

XKR6 1938 95% .

XKR7 1752 85% .

XKR8 1200 76% .

XKR9 1134 100% .

XKRX 1401 100% .

XKRY 2 0% .

XKRY2 2 0% .

XPA 846 99% Xeroderma Pigmentosum

XPA 846 99% XPA‐Related Xeroderma Pigmentosum

XPC 2887 100% Xeroderma Pigmentosum

XPC 2887 100% XPC‐Related Xeroderma Pigmentosum

XPNPEP1 2085 94% .

XPNPEP2 2171 98% .

XPNPEP3 1565 100% Nephronophthisis‐Like Nephropathy 1

XPO1 3333 100% .

XPO4 3551 99% .

XPO5 3857 100%XPO5 3857 100% .

XPO6 3474 100% .

XPO7 3403 99% .

XPOT 2985 100% .

XPR1 2151 100% .

XRCC1 1970 100% .

XRCC2 855 100% .

XRCC3 1069 80% .

XRCC4 1043 100% .

XRCC5 2655 100% .

XRCC6 1878 100% .

XRCC6BP1 765 100% .

XRN1 5326 100% .

XRN2 2973 97% .





XRRA1 2607 100% .

XXYLT1 1198 80% .

XYLB 1687 97% .

XYLT1 2928 88% .

XYLT2 2642 92% .

YAE1D1 693 100% .

YAF2 636 94% .

YAP1 1563 95% .

YARS 1639 100% YARS‐Related Intermediate Charcot‐Marie‐Tooth Neuropathy

YARS2 1454 100% .

YBEY 520 82% .

YBX1 1003 83% .

YBX2 1127 76% .

YDJC 1051 66% .

YEATS2 4393 99% .

YEATS4 712 100% .

YES1 1676 100% .

YIF1A 1058 99% .

YIF1B 1075 96%YIF1B 1075 96% .

YIPF1 956 100% .

YIPF2 983 96% .

YIPF3 1184 100% .

YIPF4 759 92% .

YIPF5 830 100% .

YIPF6 739 95% .

YIPF7 871 100% .

YJEFN3 1091 75% .

YKT6 625 100% .

YLPM1 6588 100% .

YME1L1 2402 100% .

YOD1 1055 97% .

YPEL1 376 100% .





YPEL2 376 100% .

YPEL3 490 100% .

YPEL4 400 100% .

YPEL5 374 100% .

YRDC 860 56% .

YSK4 4031 100% .

YTHDC1 2269 99% .

YTHDC2 4413 100% .

YTHDF1 1700 98% .

YTHDF2 1760 100% .

YTHDF3 1750 99% .

YWHAB 761 100% .

YWHAE 792 100% .

YWHAG 752 100% .

YWHAH 749 88% .

YWHAQ 758 100% .

YWHAZ 758 100% .

YY1 1265 89% .

YY1AP1 2836 100%YY1AP1 2836 100% .

YY2 1123 100% .

ZACN 1532 100% .

ZADH2 1142 97% .

ZAK 2871 100% .

ZAN 8788 100% .

ZAP70 1908 96% ZAP70‐Related Severe Combined Immunodeficiency

ZAR1 1291 42% .

ZAR1L 982 100% .

ZBBX 2596 100% .

ZBED1 2090 100% .

ZBED2 661 100% .

ZBED3 709 9% .

ZBED4 3520 100% .





ZBED5 2086 31% .

ZBED6 1 0% .

ZBP1 1513 97% .

ZBTB1 2187 100% .

ZBTB10 2640 84% .

ZBTB11 3308 100% .

ZBTB12 1388 99% .

ZBTB16 2046 100% .

ZBTB17 2841 88% .

ZBTB2 1553 100% .

ZBTB20 2242 100% .

ZBTB22 1913 100% .

ZBTB24 2118 100% .

ZBTB25 1316 100% .

ZBTB26 1330 100% .

ZBTB3 1733 100% .

ZBTB32 1484 100% .

ZBTB33 2023 100% .

ZBTB34 1519 100%ZBTB34 1519 100% .

ZBTB37 1587 100% .

ZBTB38 3592 100% .

ZBTB39 2143 100% .

ZBTB4 3050 100% .

ZBTB40 3788 100% .

ZBTB41 2770 100% .

ZBTB42 1273 2% .

ZBTB43 1408 100% .

ZBTB44 1706 100% .

ZBTB45 1544 99% .

ZBTB46 1786 100% .

ZBTB47 2264 88% .

ZBTB48 2107 100% .





ZBTB49 2326 100% .

ZBTB5 2038 100% .

ZBTB6 1279 100% .

ZBTB7A 1763 87% .

ZBTB7B 1734 94% .

ZBTB7C 1868 97% .

ZBTB8A 1338 100% .

ZBTB8B 1500 100% .

ZBTB8OS 568 100% .

ZBTB9 1427 100% .

ZC3H10 1309 100% .

ZC3H11A 2497 100% .

ZC3H12A 1820 100% .

ZC3H12B 2498 100% .

ZC3H12C 2676 99% .

ZC3H12D 1612 74% .

ZC3H13 4766 100% .

ZC3H14 2672 99% .

ZC3H15 1321 97%ZC3H15 1321 97% .

ZC3H18 2930 94% .

ZC3H3 2895 98% .

ZC3H4 3968 95% .

ZC3H6 3620 100% .

ZC3H7A 3004 100% .

ZC3H7B 3479 95% .

ZC3H8 910 98% .

ZC3HAV1 3131 99% .

ZC3HAV1L 923 64% .

ZC3HC1 1549 100% .

ZC4H2 714 100% .

ZCCHC10 557 100% .

ZCCHC11 5102 100% .





ZCCHC12 1213 100% .

ZCCHC13 505 100% .

ZCCHC14 2997 100% .

ZCCHC16 937 100% .

ZCCHC17 832 100% .

ZCCHC18 1 0% .

ZCCHC2 3593 74% .

ZCCHC24 1060 63% .

ZCCHC3 1219 65% .

ZCCHC4 1594 100% .

ZCCHC5 1432 100% .

ZCCHC6 4668 100% .

ZCCHC7 1664 100% .

ZCCHC8 2180 100% .

ZCCHC9 836 100% .

ZCRB1 682 100% .

ZCWPW1 2021 100% .

ZCWPW2 1103 100% .

ZDBF2 7077 100%ZDBF2 7077 100% .

ZDHHC1 1498 85% .

ZDHHC11 1571 95% .

ZDHHC12 1059 99% .

ZDHHC13 1943 99% .

ZDHHC14 1503 99% .

ZDHHC15 1138 100% .

ZDHHC16 1232 100% .

ZDHHC17 1969 100% .

ZDHHC18 1199 73% .

ZDHHC19 958 89% .

ZDHHC2 1152 88% .

ZDHHC20 1116 99% .

ZDHHC21 826 100% .





ZDHHC22 800 100% .

ZDHHC23 1250 100% .

ZDHHC24 867 89% .

ZDHHC3 1016 100% .

ZDHHC4 1059 100% .

ZDHHC5 2192 100% .

ZDHHC6 1282 99% .

ZDHHC7 1066 100% .

ZDHHC8 2574 89% .

ZDHHC9 1133 100% ZDHHC9‐Related X‐linked Mental Retardation

ZEB1 3425 100% .

ZEB2 3685 100% Mowat‐Wilson Syndrome

ZER1 2361 100% .

ZFAND1 839 94% .

ZFAND2A 633 100% .

ZFAND2B 1234 100% .

ZFAND3 708 89% .

ZFAND4 2220 100% .

ZFAND5 671 100%ZFAND5 671 100% .

ZFAND6 647 100% .

ZFAT 3903 99% .

ZFC3H1 6136 100% .

ZFHX2 7755 93% .

ZFHX3 11148 100% .

ZFHX4 11026 100% .

ZFP1 1236 100% .

ZFP106 5728 100% .

ZFP112 2791 100% .

ZFP14 1618 100% .

ZFP161 1358 100% .

ZFP2 1390 100% .

ZFP28 2639 97% .





ZFP3 1513 100% .

ZFP30 1576 100% .

ZFP36 989 100% .

ZFP36L1 1530 100% .

ZFP36L2 1493 91% .

ZFP37 1909 100% .

ZFP41 601 100% .

ZFP42 937 100% .

ZFP57 1670 99% Diabetes Mellitus, 6q24‐Related Transient Neonatal

ZFP62 2528 92% .

ZFP64 3261 100% .

ZFP82 1615 100% .

ZFP90 1967 100% .

ZFP91 1757 91% .

ZFP92 4 0% .

ZFPL1 1053 100% .

ZFPM1 3061 61% .

ZFPM2 3594 99% .

ZFR 3318 98%ZFR 3318 98% .

ZFR2 3062 78% .

ZFX 2446 100% .

ZFY 2434 100% .

ZFYVE1 2378 100% .

ZFYVE16 4690 100% .

ZFYVE19 1626 99% .

ZFYVE20 2518 100% .

ZFYVE21 1009 100% .

ZFYVE26 7841 100% Spastic Paraplegia 15

ZFYVE27 1299 100% Spastic Paraplegia 33

ZFYVE28 2936 90% .

ZFYVE9 4357 100% .

ZG16 516 100% .





ZG16B 643 100% .

ZGLP1 832 100% .

ZGPAT 1620 100% .

ZHX1 2626 100% .

ZHX1‐C8ORF76 876 100% .

ZHX2 2518 100% .

ZHX3 2879 100% .

ZIC1 1356 100% .

ZIC2 1611 70% Holoprosencephaly

ZIC2 1611 70% ZIC2‐Related Holoprosencephaly

ZIC3 1416 94% Heterotaxy Syndrome

ZIC3 1416 94% Visceral Heterotaxy 1, X‐Linked

ZIC4 1140 91% .

ZIC5 2000 50% .

ZIK1 1480 100% .

ZIM2 1998 100% .

ZIM3 1435 100% .

ZKSCAN1 1712 100% .

ZKSCAN2 2932 100%ZKSCAN2 2932 100% .

ZKSCAN3 1772 100% .

ZKSCAN4 1748 100% .

ZKSCAN5 2548 100% .

ZMAT1 1941 94% .

ZMAT2 689 100% .

ZMAT3 890 100% .

ZMAT4 714 91% .

ZMAT5 533 100% .

ZMIZ1 3438 100% .

ZMIZ2 2835 100% .

ZMPSTE24 1468 100% Lethal Restrictive Dermopathy, ZMPSTE24‐Related

ZMPSTE24 1468 100% Mandibuloacral Dysplasia

ZMYM1 3465 100% .





ZMYM2 4302 100% .

ZMYM3 4233 99% .

ZMYM4 4767 99% .

ZMYM5 2145 100% .

ZMYM6 4123 76% .

ZMYM6NB 477 88% .

ZMYND10 1461 100% .

ZMYND11 1886 100% .

ZMYND12 1130 100% .

ZMYND15 2281 95% .

ZMYND17 1407 100% .

ZMYND19 708 93% .

ZMYND8 4121 99% .

ZNF10 1738 100% .

ZNF100 1649 100% .

ZNF101 1327 100% .

ZNF107 2361 100% .

ZNF114 1266 100% .

ZNF117 1460 100%ZNF117 1460 100% .

ZNF12 2160 100% .

ZNF121 1181 100% .

ZNF124 1174 97% .

ZNF131 1911 100% .

ZNF132 2154 97% .

ZNF133 1983 100% .

ZNF134 1292 100% .

ZNF135 2130 100% .

ZNF136 1639 100% .

ZNF138 1121 100% .

ZNF14 2335 100% .

ZNF140 1390 61% .

ZNF141 1441 100% .





ZNF142 5092 100% .

ZNF143 2070 100% .

ZNF146 883 100% .

ZNF148 2409 100% .

ZNF154 1326 97% .

ZNF155 1633 100% .

ZNF157 1537 100% .

ZNF16 2060 100% .

ZNF160 2473 100% .

ZNF165 1470 100% .

ZNF167 2309 99% .

ZNF169 1953 100% .

ZNF17 2001 100% .

ZNF174 1320 100% .

ZNF175 2152 100% .

ZNF177 1466 81% .

ZNF18 1674 100% .

ZNF180 2104 100% .

ZNF181 1732 100%ZNF181 1732 100% .

ZNF182 1955 96% .

ZNF184 2276 100% .

ZNF185 2436 97% .

ZNF187 5 0% .

ZNF189 1893 100% .

ZNF19 1393 100% .

ZNF192 1771 100% .

ZNF193 1374 87% .

ZNF195 1934 92% .

ZNF197 3149 100% .

ZNF2 1336 100% .

ZNF20 1628 100% .

ZNF200 1204 100% .





ZNF202 1971 100% .

ZNF205 1689 100% .

ZNF207 1542 100% .

ZNF208 3472 100% .

ZNF211 1750 100% .

ZNF212 1637 91% .

ZNF213 1400 100% .

ZNF214 1829 100% .

ZNF215 1574 100% .

ZNF217 3163 100% .

ZNF219 2185 83% .

ZNF22 679 100% .

ZNF221 1870 100% .

ZNF222 1511 97% .

ZNF223 1465 100% .

ZNF224 2140 100% .

ZNF225 2137 100% .

ZNF226 2482 100% .

ZNF227 2416 100%ZNF227 2416 100% .

ZNF229 2494 100% .

ZNF23 1944 100% .

ZNF230 1441 100% .

ZNF232 1351 100% .

ZNF233 2127 100% .

ZNF234 2119 100% .

ZNF235 2237 100% .

ZNF236 5662 99% .

ZNF238 1604 100% .

ZNF239 1381 100% .

ZNF24 1119 100% .

ZNF248 1756 100% .

ZNF25 1391 100% .





ZNF250 1730 100% .

ZNF251 2032 100% .

ZNF253 1516 100% .

ZNF254 1996 100% .

ZNF256 1896 98% .

ZNF257 1708 100% .

ZNF259 1436 95% .

ZNF26 1624 0% .

ZNF260 1 0% .

ZNF263 2076 100% .

ZNF264 1900 100% .

ZNF266 1666 100% .

ZNF267 2248 100% .

ZNF268 3026 96% .

ZNF273 1726 100% .

ZNF274 1989 100% .

ZNF275 1305 100% .

ZNF276 1889 89% .

ZNF277 1479 100%ZNF277 1479 100% .

ZNF28 2169 100% .

ZNF280A 1633 100% .

ZNF280B 1636 100% .

ZNF280C 2286 100% .

ZNF280D 3020 100% .

ZNF281 2692 94% .

ZNF282 2048 85% .

ZNF283 2079 94% .

ZNF284 1798 100% .

ZNF285 1785 100% .

ZNF286A 1586 100% .

ZNF286B 4 0% .

ZNF287 2306 100% .





ZNF292 8204 99% .

ZNF295 3205 100% .

ZNF296 1440 100% .

ZNF3 1486 100% .

ZNF30 1891 100% .

ZNF300 1891 100% .

ZNF302 1288 100% .

ZNF304 1992 100% .

ZNF311 2061 98% .

ZNF317 1850 95% .

ZNF318 6880 94% .

ZNF319 1753 100% .

ZNF32 830 100% .

ZNF320 1542 100% .

ZNF322 1213 85% .

ZNF323 1233 100% .

ZNF324 1674 100% .

ZNF324B 1855 100% .

ZNF326 1857 99%ZNF326 1857 99% .

ZNF329 1630 100% .

ZNF330 1000 100% .

ZNF331 1404 100% .

ZNF333 2042 100% .

ZNF334 2112 100% .

ZNF335 4187 100% .

ZNF337 2272 100% .

ZNF33A 2452 100% .

ZNF33B 2353 100% .

ZNF34 1729 99% .

ZNF341 2625 99% .

ZNF343 1816 100% .

ZNF345 1471 100% .





ZNF346 961 85% .

ZNF347 2539 100% .

ZNF35 1596 100% .

ZNF350 1615 100% .

ZNF354A 1834 100% .

ZNF354B 1855 99% .

ZNF354C 1681 100% .

ZNF358 1711 85% .

ZNF362 1295 91% .

ZNF365 2153 100% .

ZNF366 2251 100% .

ZNF367 1073 80% .

ZNF37A 1702 100% .

ZNF382 1665 100% .

ZNF383 1444 100% .

ZNF384 1953 100% .

ZNF385A 1193 74% .

ZNF385B 1478 100% .

ZNF385C 1298 88%ZNF385C 1298 88% .

ZNF385D 1220 100% .

ZNF391 1081 100% .

ZNF394 1698 100% .

ZNF395 1578 100% .

ZNF396 1119 100% .

ZNF397 2667 100% .

ZNF398 1953 99% .

ZNF404 1661 100% .

ZNF407 6889 100% .

ZNF408 2184 100% .

ZNF41 2396 99% X‐Linked Mental Retardation 89

ZNF410 1643 90% .

ZNF414 1219 66% .





ZNF415 1681 100% .

ZNF416 1801 99% .

ZNF417 1740 98% .

ZNF418 2043 100% .

ZNF419 1561 100% .

ZNF420 2079 100% .

ZNF423 3887 100% .

ZNF425 2341 100% .

ZNF426 1689 100% .

ZNF428 2944 36% .

ZNF429 2041 100% .

ZNF43 2446 100% .

ZNF430 1733 100% .

ZNF431 1751 100% .

ZNF432 1975 100% .

ZNF433 2038 100% .

ZNF434 1529 100% .

ZNF436 1425 100% .

ZNF438 2511 100%ZNF438 2511 100% .

ZNF439 1512 100% .

ZNF44 2012 100% .

ZNF440 1813 100% .

ZNF441 2098 100% .

ZNF442 1900 100% .

ZNF443 2036 100% .

ZNF444 996 71% .

ZNF445 3128 100% .

ZNF446 1575 100% .

ZNF449 1714 100% .

ZNF45 2065 100% .

ZNF451 3302 97% .

ZNF454 1585 100% .





ZNF460 1701 100% .

ZNF461 1700 96% .

ZNF462 7841 100% .

ZNF467 2151 83% .

ZNF468 1581 100% .

ZNF469 11786 1% .

ZNF470 2283 100% .

ZNF471 1897 100% .

ZNF473 2632 100% .

ZNF474 1099 100% .

ZNF479 1591 100% .

ZNF48 1865 96% .

ZNF480 1643 100% .

ZNF483 2434 100% .

ZNF484 2575 100% .

ZNF485 1342 100% .

ZNF486 1408 100% .

ZNF488 1027 100% .

ZNF490 1610 100%ZNF490 1610 100% .

ZNF491 1318 100% .

ZNF492 1608 100% .

ZNF493 2404 98% .

ZNF496 1792 100% .

ZNF497 1501 98% .

ZNF498 1659 100% .

ZNF500 1463 96% .

ZNF501 820 100% .

ZNF502 1643 100% .

ZNF503 2261 82% .

ZNF506 1351 100% .

ZNF507 2882 100% .

ZNF510 2123 100% .





ZNF511 892 88% .

ZNF512 1760 100% .

ZNF512B 2743 93% .

ZNF513 1642 100% .

ZNF514 1221 100% .

ZNF516 3513 100% .

ZNF517 1495 98% .

ZNF518A 4048 100% .

ZNF518B 3229 100% .

ZNF519 1635 100% .

ZNF521 3964 99% .

ZNF524 799 100% .

ZNF526 2017 100% .

ZNF527 1850 100% .

ZNF528 1903 100% .

ZNF529 1691 100% .

ZNF530 1812 99% .

ZNF532 3938 100% .

ZNF534 2041 100%ZNF534 2041 100% .

ZNF536 3919 100% .

ZNF540 1999 100% .

ZNF541 4158 74% .

ZNF543 1819 100% .

ZNF544 2164 100% .

ZNF546 2531 100% .

ZNF547 1221 100% .

ZNF548 1654 100% .

ZNF549 1939 100% .

ZNF550 1154 100% .

ZNF551 2025 100% .

ZNF552 1236 100% .

ZNF554 1637 97% .





ZNF555 1903 100% .

ZNF556 1387 100% .

ZNF557 1317 100% .

ZNF558 1233 100% .

ZNF559 1637 100% .

ZNF559‐ZNF177 1467 81% .

ZNF560 2405 100% .

ZNF561 1512 100% .

ZNF562 1301 100% .

ZNF563 1447 100% .

ZNF564 1678 100% .

ZNF565 1579 100% .

ZNF566 1276 100% .

ZNF567 1947 100% .

ZNF568 3521 100% .

ZNF569 2077 100% .

ZNF57 1684 100% .

ZNF570 1627 100% .

ZNF571 1842 100%ZNF571 1842 100% .

ZNF572 1598 100% .

ZNF573 2095 94% .

ZNF574 2715 100% .

ZNF575 832 90% .

ZNF576 521 100% .

ZNF577 1474 100% .

ZNF578 3 0% .

ZNF579 1693 41% .

ZNF580 523 86% .

ZNF581 598 100% .

ZNF582 1570 100% .

ZNF583 1726 100% .

ZNF584 1677 82% .





ZNF585A 2250 100% .

ZNF585B 2326 100% .

ZNF586 1367 86% .

ZNF587 1740 100% .

ZNF589 1111 100% .

ZNF592 3836 100% .

ZNF593 507 86% .

ZNF594 3365 100% .

ZNF595 6 0% .

ZNF596 1535 100% .

ZNF597 1287 100% .

ZNF598 2866 92% .

ZNF599 1783 99% .

ZNF600 2173 100% .

ZNF605 2035 34% .

ZNF606 2403 100% .

ZNF607 2107 100% .

ZNF608 4575 100% .

ZNF609 4517 98%ZNF609 4517 98% .

ZNF610 1405 100% .

ZNF611 2130 100% .

ZNF613 1870 100% .

ZNF614 1774 100% .

ZNF615 2249 98% .

ZNF616 2358 100% .

ZNF618 2645 99% .

ZNF619 1893 97% .

ZNF620 1285 100% .

ZNF621 1336 92% .

ZNF622 1458 100% .

ZNF623 1615 100% .

ZNF624 2618 100% .





ZNF625 1144 100% .

ZNF626 1660 100% .

ZNF627 1402 100% .

ZNF628 3172 81% .

ZNF629 2618 100% .

ZNF630 1990 100% .

ZNF638 6246 100% .

ZNF639 1474 100% .

ZNF641 1444 100% .

ZNF642 1601 100% .

ZNF643 1759 100% .

ZNF644 4011 100% .

ZNF645 1282 100% .

ZNF646 5620 100% .

ZNF648 1711 100% .

ZNF649 1534 100% .

ZNF652 1841 100% .

ZNF653 1884 83% .

ZNF654 1754 100%ZNF654 1754 100% .

ZNF655 2039 100% .

ZNF658 3196 97% .

ZNF660 1000 100% .

ZNF662 1484 94% .

ZNF664 790 100% .

ZNF664‐FAM101A 452 100% .

ZNF665 2049 100% .

ZNF667 1908 100% .

ZNF668 1869 100% .

ZNF669 1411 100% .

ZNF670 1186 100% .

ZNF671 1688 100% .

ZNF672 1363 87% .





ZNF673 721 93% .

ZNF674 1762 100% ZNF674‐Related X‐linked Mental Retardation

ZNF675 1723 100% .

ZNF676 1779 100% .

ZNF677 1767 100% .

ZNF678 1759 94% .

ZNF679 1252 100% .

ZNF680 1732 100% .

ZNF681 1954 100% .

ZNF682 1513 100% .

ZNF683 1546 100% .

ZNF684 1153 100% .

ZNF687 3844 99% .

ZNF688 1001 97% .

ZNF689 1515 100% .

ZNF69 1723 100% .

ZNF691 983 100% .

ZNF692 1623 99% .

ZNF695 1701 94%ZNF695 1701 94% .

ZNF696 1133 94% .

ZNF697 1667 90% .

ZNF699 1949 100% .

ZNF7 2110 100% .

ZNF70 1345 100% .

ZNF700 2245 100% .

ZNF701 1434 100% .

ZNF703 1781 62% .

ZNF704 1271 100% .

ZNF705A 923 100% .

ZNF705D 923 40% .

ZNF705G 923 100% .

ZNF706 239 100% .





ZNF707 1132 100% .

ZNF708 1708 100% .

ZNF709 1942 100% .

ZNF71 1474 100% .

ZNF710 2011 100% .

ZNF711 2314 100% ZNF711‐Related X‐linked Mental Retardation

ZNF713 1309 100% .

ZNF714 1677 99% .

ZNF716 1504 100% .

ZNF717 2761 14% .

ZNF718 4 0% .

ZNF720 794 97% .

ZNF721 2873 100% .

ZNF726 1852 100% .

ZNF727 4 0% .

ZNF729 3510 100% .

ZNF732 1767 100% .

ZNF735 4 0% .

ZNF736 1300 100%ZNF736 1300 100% .

ZNF737 1621 100% .

ZNF74 1955 100% .

ZNF740 606 100% .

ZNF746 1966 91% .

ZNF747 584 98% .

ZNF749 2349 100% .

ZNF750 2180 100% .

ZNF75A 903 100% .

ZNF75D 1553 100% .

ZNF76 2080 99% .

ZNF761 4 0% .

ZNF763 1210 100% .

ZNF764 1239 100% .





ZNF765 1584 100% .

ZNF766 1446 100% .

ZNF768 1631 100% .

ZNF77 1654 100% .

ZNF770 2080 100% .

ZNF771 962 53% .

ZNF772 1510 100% .

ZNF773 1414 100% .

ZNF774 1464 100% .

ZNF775 1622 88% .

ZNF776 1586 100% .

ZNF777 2876 99% .

ZNF778 2298 100% .

ZNF780A 2124 100% .

ZNF780B 2518 100% .

ZNF781 988 100% .

ZNF782 2116 100% .

ZNF783 1665 98% .

ZNF784 980 85%ZNF784 980 85% .

ZNF785 1256 100% .

ZNF786 2365 100% .

ZNF787 1160 74% .

ZNF789 1377 100% .

ZNF79 1517 100% .

ZNF790 1927 100% .

ZNF791 1747 100% .

ZNF792 1915 99% .

ZNF793 1237 100% .

ZNF799 1948 100% .

ZNF8 1985 85% .

ZNF80 826 100% .

ZNF800 2015 100% .





ZNF804A 3646 100% .

ZNF804B 4069 100% .

ZNF805 1900 99% .

ZNF808 2724 100% .

ZNF81 2035 100% X‐Linked Mental Retardation 45

ZNF812 1381 100% .

ZNF813 1866 100% .

ZNF814 2580 99% .

ZNF816 1968 100% .

ZNF816‐ZNF321P 697 100% .

ZNF821 1263 90% .

ZNF823 1849 100% .

ZNF827 3296 100% .

ZNF829 7 0% .

ZNF83 1555 100% .

ZNF830 1123 100% .

ZNF831 5054 100% .

ZNF835 1665 100% .

ZNF836 2823 100%ZNF836 2823 100% .

ZNF837 1600 53% .

ZNF839 2822 90% .

ZNF84 2237 0% .

ZNF841 2791 100% .

ZNF843 1051 62% .

ZNF844 2017 100% .

ZNF845 2925 100% .

ZNF846 1622 100% .

ZNF85 1844 98% .

ZNF850 1410 100% .

ZNF853 3 0% .

ZNF860 1903 100% .

ZNF862 3542 99% .





ZNF865 1327 22% .

ZNF878 1606 100% .

ZNF879 1708 73% .

ZNF880 1750 99% .

ZNF883 1 0% .

ZNF90 1822 100% .

ZNF91 3592 100% .

ZNF92 1777 100% .

ZNF93 1879 100% .

ZNF98 1735 100% .

ZNF99 2545 100% .

ZNFX1 5840 100% .

ZNHIT1 485 100% .

ZNHIT2 1216 95% .

ZNHIT3 528 100% .

ZNHIT6 1453 100% .

ZNRD1 425 93% .

ZNRF1 700 66% .

ZNRF2 745 47%ZNRF2 745 47% .

ZNRF3 2544 100% .

ZNRF4 1294 100% .

ZP1 1965 100% .

ZP2 2314 100% .

ZP3 1343 100% .

ZP4 1671 100% .

ZPBP 1189 86% .

ZPBP2 1049 100% .

ZPLD1 1340 100% .

ZRANB1 2163 100% .

ZRANB2 1071 100% .

ZRANB3 3320 100% .

ZRSR2 1493 98% .





ZSCAN1 1410 100% .

ZSCAN10 2198 98% .

ZSCAN12 1706 100% .

ZSCAN16 1059 100% .

ZSCAN18 1729 96% .

ZSCAN2 1943 100% .

ZSCAN20 3180 100% .

ZSCAN21 1468 100% .

ZSCAN22 1484 100% .

ZSCAN23 1182 100% .

ZSCAN29 2579 100% .

ZSCAN30 1545 100% .

ZSCAN4 1314 100% .

ZSCAN5A 1507 100% .

ZSCAN5B 1504 100% .

ZSWIM1 1462 100% .

ZSWIM2 2019 100% .

ZSWIM3 2099 100% .

ZSWIM4 3022 94%ZSWIM4 3022 94% .

ZSWIM5 3614 97% .

ZSWIM6 3704 64% .

ZSWIM7 914 58% .

ZUFSP 1773 100% .

ZW10 2404 100% .

ZWILCH 1848 100% .

ZWINT 907 100% .

ZXDA 2404 91% .

ZXDB 2416 91% .

ZXDC 2623 84% .

ZYG11A 2336 98% .

ZYG11B 2291 99% .

ZYX 1755 100% .





ZZEF1 9286 98% .

ZZZ3 2756 100% .

Documents

System Clinical Exome Sequencing Enhanced Package …pathology.ucla.edu/workfiles/CES-gene-coverage.pdfACTA2 1166 100% ACTA2‐Related Thoracic Aortic Aneurysms and Aortic Dissections