HASTALIK
GEN OMIMgene
2-aminoadipic 2-oxoadipic aciduria DHTKD1 614984
2-methylbutyrylglycinuria ACADSB 600301
3-beta-hydroxysteroid dehydrogenase deficiency type 2 HSD3B2 613890
3-hydroxy-3-methylglutaryl-CoA lyase deficiency HMGCL 613898
3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency HMGCS2 600234
3-hydroxyisobutryl-CoA hydrolase deficiency HIBCH 610690
3MC syndrome type 1 MASP1 600521
3MC syndrome type 2 COLEC11 612502
3-methylglutaconic aciduria type 1 AUH 600529
3-methylglutaconic aciduria type 3 OPA3 606580
3-methylglutaconic aciduria type 5 DNAJC19 608977
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome SERAC1 614725
5-oxoprolinase deficiency OPLAH 614243
6q24-related transient neonatal diabetes mellitus type 1 UPD chr. 6  
17-beta hydroxysteroid dehydrogenase X deficiency HSD17B10 300256
17-hydroxylation activity deficiency CYP17A1 609300
46,XX sex reversal type 1 SRY 480000
46,XY gonadal dysgenesis, partial, with minifascicular neuropathy DHH 605423
46,XY sex reversal type 8, modifier of AKR1C4 600451
Abetalipoproteinemia MTTP 157147
Accelerated tumor formation, susceptibility to MDM2 164785
Acetycholinesterase deficiency ACHE 100740
Acetyl-CoA carboxylase deficiency ACACA 200350
Achalasia addisonianism alacrimia syndrome AAAS 605378
Achalasia addisonianism alacrimia syndrome AAAS 605378
Achondrogenesis type 1A TRIP11 604505
Achondrogenesis type 1B SLC26A2 606718
Achondrogenesis type 2 COL2A1 120140
Achondrogenesis type 2 COL2A1 120140
Achondroplasia FGFR3 134934
Achromatopsia type 2 CNGA3 600053
Achromatopsia type 3 CNGB3 605080
Achromatopsia type 4 GNAT2 139340
Achromatopsia type 6 PDE6H 601190
Acne inversa familial type 3 PSEN1 104311
Acrocallosal syndrome KIF7 611254
Acrodermatitis enteropathica SLC39A4 607059
Acrodysostosis 2 PDE4D 600129
Acrodysostosis type 1, with or without hormone resistance PRKAR1A 188830
Acrofacial dysostosis 1, Nager type SF3B4 605593
Acromegaly, predisposition to, due to germline GPR101 mutation GPR101 300393
Acromelic frontonasal dysostosis ZSWIM6 615951
Acromesomelic dysplasia, Maroteaux type NPR2 108961
Acromicric dysplasia FBN1 134797
Acute myeloid leukemia, somatic, DNMT3A related DNMT3A 602769
Acyl-CoA medium-chain dehydrogenase deficiency ACADM 607008
Acyl-CoA multiple dehydrogenase deficiency ETFA 608053
Acyl-CoA multiple dehydrogenase deficiency ETFB 130410
Acyl-CoA peroxisomal oxidase deficiency ACOX1 609751
Acyl-CoA short-chain dehydrogenase deficiency ACADS 606885
Acyl-CoA very long-chain dehydrogenase deficiency ACADVL 609575
Adams-Oliver syndrome type 1 ARHGAP31 610911
Adams-Oliver syndrome type 2 DOCK6 614194
Adams-Oliver syndrome type 3 RBPJ 147183
Adams-Oliver syndrome type 4 EOGT 614789
Adams-Oliver syndrome type 6 DLL4 605185
Adenine phosphoribosyltransferase deficiency APRT 102600
Adenocarcinoma of lung, somatic BRAF 164757
Adenocarcinoma of lung, somatic ERBB2 164870
Adenoma, periampullary, somatic APC 611731
Adenosine triphosphate, elevated, of erythrocytes PKLR 609712
Adenylosuccinase deficiency ADSL 608222
Adrenal adenoma, somatic MEN1 613733
Adrenal hyperplasia due to 21-hydroxylase deficiency CYP21A2 613815
Adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency POR 124015
Adrenal hyperplasia due to steroid 11-beta-hydroxylase deficiency CYP11B1 610613
Adrenal hypoplasia NR0B1 300473
Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete CYP11A1 118485
Adrenocorticotropic hormone deficiency TBX19 604614
Adrenoleukodystrophy, x-linked ABCD1 300371
Adrenoleukodystrophy, x-linked PLXNB3 300214
Adrenoleukodystrophy/Adrenomyeloneuropathy ABCD1 300371
ADULT syndrome, split hand-foot malformation TP63 603273
Afibrinogenemia, congenital FGA 134820
Afibrinogenemia, congenital FGB 134830
Afibrinogenemia, congenital FGG 134850
Agammaglobulinemia and isolated hormone deficiency BTK 300300
Agammaglobulinemia type 1, autosomal recessive IGHM 147020
Agammaglobulinemia type 1, X-linked BTK 300300
Agammaglobulinemia type 2, autosomal recessive IGLL1 146770
Agammaglobulinemia type 3, autosomal recessive CD79A 112205
Agammaglobulinemia type 4, autosomal recessive BLNK 604515
Agammaglobulinemia type 5, autosomal recessive LRRC8A 608360
Agammaglobulinemia type 6, autosomal recessive CD79B 147245
Agammaglobulinemia type 7, autosomal recessive PIK3R1 171833
Agenesis of the corpus callosum with peripheral neuropathy SLC12A6 604878
Aicardi-Goutieres syndrome type 1 TREX1 606609
Aicardi-Goutieres syndrome type 2 RNASEH2B 610326
Aicardi-Goutieres syndrome type 3 RNASEH2C 610330
Aicardi-Goutieres syndrome type 4 RNASEH2A 606034
Aicardi-Goutieres syndrome type 5 SAMHD1 606754
Aicardi-Goutieres syndrome type 6 ADAR 146920
Aicardi-Goutieres syndrome type 7 IFIH1 606951
Alacrima, achalasia and mental retardation syndrome GMPPA 615495
Alagille syndrome type 1 JAG1 601920
Alagille syndrome type 2 NOTCH2 600275
Aland Island eye disease CACNA1F 300110
Alazami syndrome LARP7 612026
Albinism, ocular type I, Nettleship-Falls type GPR143 300808
Albinism, oculocutaneous nonsyndromic SLC24A5 609802
Albinism, oculocutaneous nonsyndromic SLC24A5 609802
Albinism, oculocutaneous type 1A TYR 606933
Albinism, oculocutaneous type 1A TYR 606933
Albinism, oculocutaneous type 1B TYR 606933
Albinism, oculocutaneous type 1B TYR 606933
Albinism, oculocutaneous type 2 OCA2 611409
Albinism, oculocutaneous type 2 OCA2 611409
Albinism, oculocutaneous type 3 TYRP1 115501
Albinism, oculocutaneous type 3 TYRP1 115501
Albinism, oculocutaneous type 4 SLC45A2 606202
Albinism, oculocutaneous type 4 SLC45A2 606202
Albinism, oculocutaneous type 5 C10ORF11 614537
Albinism, oculocutaneous type 5 C10ORF11 614537
Alexander disease GFAP 137780
Alkaptonuria HGD 607474
Allan-Herndon-Dudley syndrome SLC16A2 300095
Allan-Herndon-Dudley syndrome SLC16A2 300095
Alopecia universalis HR 602302
Alpha-2-macroglobulin deficiency A2M 103950
Alpha-ketoglutarate dehydrogenase deficiency OGDH 613022
Alpha-methylacyl CoA racemase deficiency AMACR 604489
Alpha-thalassemia/mental retardation syndrome ATRX 300032
Alpha-thalassemia/mental retardation syndrome ATRX 300032
Alpha-thalassemia/mental retardation syndrome ATRX 300032
Alport syndrome, autosomal recessive COL4A3 120070
Alport syndrome, autosomal recessive COL4A3 120070
Alport syndrome, autosomal recessive COL4A4 120131
Alport syndrome, autosomal recessive COL4A4 120131
Alport syndrome, X-Linked COL4A5 303630
Alport syndrome, X-Linked COL4A5 303630
Al-Raqad syndrome DCPS 610534
Alstrom syndrome ALMS1 606844
Alternating hemiplegia of childhood type 1 ATP1A2 182340
Alternating hemiplegia of childhood type 2 ATP1A3 182350
Alveolar capillary dysplasia with misalignment of pulmonary veins FOXF1 601089
Alzheimer disease type 1 APP 104760
Alzheimer disease type 2 APOE 107741
Alzheimer disease type 3 PSEN1 104311
Alzheimer disease type 4 PSEN2 600759
Alzheimers disease, early onset, autosomal dominant SORL1 602005
Alzheimers disease, RTN3 related RTN3 604249
Amelogenesis imperfecta type 1A LAMB3 150310
Amelogenesis imperfecta type 1B ENAM 606585
Amelogenesis imperfecta type 1C ENAM 606585
Amelogenesis imperfecta type 1E AMELX 300391
Amelogenesis imperfecta type 1F AMBN 601259
Amelogenesis imperfecta type 1G FAM20A 611062
Amelogenesis imperfecta type 1H ITGB6 147558
Amelogenesis imperfecta type 2A1 KLK4 603767
Amelogenesis imperfecta type 2A2 MMP20 604629
Amelogenesis imperfecta type 2A3 WDR72 613214
Amelogenesis imperfecta type 2A4 C4orf26 614829
Amelogenesis imperfecta type 2A5 SLC24A4 609840
Amelogenesis imperfecta type 3 FAM83H 611927
Amelogenesis imperfecta type 4 DLX3 600525
Amelotin deficiency AMTN 610912
Aminoacylase deficiency ACY1 104620
Amish infantile epilepsy syndrome ST3GAL5 604402
AMP deaminase deficiency, erythrocytic AMPD3 102772
Amyloidosis TTR 176300
Amyloidosis, familial visceral APOA1 107680
Amyloidosis, finnish type GSN 137350
Amyloidosis, primary localized cutaneous, type 1 OSMR 601743
Amyloidosis, primary localized cutaneous, type 2 IL31RA 609510
Amyotrophic lateral sclerosis risk factor CHGB 118920
Amyotrophic lateral sclerosis type 1 SOD1 147450
Amyotrophic lateral sclerosis type 2, juvenile ALS2 606352
Amyotrophic lateral sclerosis type 4 SETX 608465
Amyotrophic lateral sclerosis type 6 FUS 137070
Amyotrophic lateral sclerosis type 8 VAPB 605704
Amyotrophic lateral sclerosis type 9 ANG 105850
Amyotrophic lateral sclerosis type 10 TARDBP 605078
Amyotrophic lateral sclerosis type 11 FIG4 609390
Amyotrophic lateral sclerosis type 12 OPTN 602432
Amyotrophic lateral sclerosis type 14 VCP 601023
Amyotrophic lateral sclerosis type 16 SIGMAR1 601978
Amyotrophic lateral sclerosis type 17 CHMP2B 609512
Amyotrophic lateral sclerosis type 18 PFN1 176610
Amyotrophic lateral sclerosis type 21 MATR3 164015
Amyotrophic lateral sclerosis with frontotemporal dementia C9orf72 614260
Amyotrophic lateral sclerosis, CREST related SS18L1 606472
Amyotrophic lateral sclerosis, susceptibility to NEFH 162230
Amyotrophic lateral sclerosis, VPS54 related VPS54 614633
Amyotrophic lateral sclerosis, x-linked juvenile and adult-onset ALS UBQLN2 300264
Amyotrophy hereditary neuralgic SEPT9 604061
Andersen disease GBE1 607839
Androgen insensitivity AR 313700
Androgen insensitivity, partial, with or without breast cancer AR 313700
Androgen-binding protein deficiency SHBG 182205
Anemia dyserythropoietic type 1A CDAN1 607465
Anemia dyserythropoietic type 2 SEC23B 610512
Anemia, neonatal hemolytic, fatal and near-fatal SPTB 182870
Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive GLRX5 609588
Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive SLC25A38 610819
Anemia, sideroblastic, with ataxia ABCB7 300135
Anemia, sideroblastic, X-linked ALAS2 301300
Anemia, X-linked GATA1 305371
Angelman syndrome chr. 15q11  
Angelman syndrome UBE3A 601623
Angelman-like syndrome CDKL5 300203
Angelman-like syndrome MECP2 300005
Angioedema, hereditary SERPING1 606860
Angiofibroma, somatic MEN1 613733
Anhaptoglobinemia HP 140100
Aniridia PAX6 607108
Ankyloblepharon-ectodermal defects-cleft lip/palate TP63 603273
Anterior segment mesenchymal dysgenesis PITX3 602669
Anterior segment mesenchymal dysgenesis PITX3 602669
Antithrombin III deficiency SERPINC1 107300
Antitrypsin-alpha-1 deficiency SERPINA1 107400
Antley-Bixler syndrome FGFR2 176943
Aortic aneurysm, familial thoracic type 3 TGFBR2 190182
Aortic aneurysm, familial thoracic type 4 MYH11 160745
Aortic aneurysm, familial thoracic type 5 TGFBR1 190181
Aortic aneurysm, familial thoracic type 6 ACTA2 102620
Aortic aneurysm, familial thoracic type 7 MYLK 600922
Aortic aneurysm, familial thoracic type 8 PRKG1 176894
Aortic aneurysm, familial thoracic, MAT2A related MAT2A 601468
Aortic valve disease type 1 NOTCH1 190198
Aortic valve disease type 2 SMAD6 602931
Apert syndrome FGFR2 176943
Aplastic anemia PRF1 170280
Aplastic anemia TERC 602322
Aplastic anemia, SBDS related SBDS 607444
Apolipoprotein C-II deficiency APOC2 608083
Apparent mineralocorticoid excess HSD11B2 614232
Arginase deficiency ARG1 608313
Arginine-glycine amidinotransferase deficiency GATM 602360
Argininosuccinic aciduria ASL 608310
Aromatase deficiency CYP19A1 107910
Aromatic L-amino acid decarboxylase deficiency DDC 107930
Arrhythmogenic right ventricular cardiomyopathy type 1 TGFB3 190230
Arrhythmogenic right ventricular cardiomyopathy type 5 TMEM43 612048
Arrhythmogenic right ventricular cardiomyopathy type 8 DSP 125647
Arrhythmogenic right ventricular cardiomyopathy type 9 PKP2 602861
Arrhythmogenic right ventricular cardiomyopathy type 10 DSG2 125671
Arrhythmogenic right ventricular cardiomyopathy type 11 DSC2 125645
Arrhythmogenic right ventricular cardiomyopathy type 12 JUP 173325
Arrhythmogenic right ventricular dysplasia type 2 RYR2 180902
Arterial calcification type 1, generalized, infantile ENPP1 173335
Arterial calcification type 2, generalized, infantile ABCC6 603234
Arterial Tortuosity Syndrome SLC2A10 606145
Arthrogryposis, distal, type 1A TPM2 190990
Arthrogryposis, distal, type 1B MYBPC1 160794
Arthrogryposis, distal, type 2A MYH3 160720
Arthrogryposis, distal, type 2B MYH3 160720
Arthrogryposis, distal, type 2B TNNI2 191043
Arthrogryposis, distal, type 2B TNNT3 600692
Arthrogryposis, distal, type 3 PIEZO2 613629
Arthrogryposis, distal, type 5D ECEL1 605896
Arthrogryposis, distal, type 5 PIEZO2 613629
Arthrogryposis, distal, type 7 MYH8 160741
Arthrogryposis, mental retardation, and seizures SLC35A3 605632
Arthrogryposis, renal dysfunction, and cholestasis type 1 VPS33B 608552
Arthrogryposis, renal dysfunction, and cholestasis type 2 VIPAS39 613401
Arthrogryposis, renal dysfunction, and cholestasis type 2 VIPAS39 613401
Arthropathy, progressive pseudorheumatoid, of childhood WISP3 603400
Arts syndrome PRPS1 311850
Asparaginesynthetase deficiency ASNS 108370
Aspartylglucosaminuria AGA 613228
Asperger syndrome susceptibility X-linked type 2 NLGN3 300336
Ataxia and muscle hypotonia COX20 614698
Ataxia telangiectasia like disorder MRE11A 600814
Ataxia, posterior column, with retinitis pigmentosa FLVCR1 609144
Ataxia, progressive seizures, mental deterioration, and hearing loss, MT-TV related MT-TV 590105
Ataxia-oculomotor apraxia type 1 APTX 606350
Ataxia-oculomotor apraxia type 2 SETX 608465
Ataxia-oculomotor apraxia type 3 PIK3R5 611317
Ataxia-oculomotor apraxia type 4 PNKP 605610
Ataxia-telangiectasia ATM 607585
Atelosteogenesis type 1 FLNB 603381
Atelosteogenesis type 3