All diseases

9 entries on 1 page. Showing entries 1 - 9.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
05056 BMKS Burn-McKeown syndrome (BMKS) 608572 AR 14 14 TXNL4A - -
06542 GCCD5 ?Glucocorticoid deficiency 5 617825 AR - - TXNRD2 - -
01190 MJD;SCA3 disease, Machado-Joseph (MJD, spinocerebellar ataxia 3 (SCA-3)) 109150 AD - - ATXN3 - -
00414 PD Parkinson disease, susceptibility to 168600 AD;AR;Mu 76 55 ADH1C, ATXN2, GBA, MAPT, TBP - -
01474 SCA1 ataxia, spinocerebellar, type 1 (SCA-1) 164400 AD 8 7 ATXN1 - -
02456 SCA10 ataxia, spinocerebellar, type 10 (SCA-10) 603516 AD 4 3 ATXN10 - -
01565 SCA2;ALS13 ataxia, spinocerebellar, type 2 (SCA-2, sclerosis, lateral, amyotrophic (ALS-13)) 183090 AD - - ATXN2 - -
01475 SCA7 ataxia, spinocerebellar, type 7 (SCA-7) 164500 AD 1 - ATXN7 - -
02789 SCA8 ataxia, spinocerebellar, type 8 (SCA-8) 608768 AD 1 - ATXN8OS - -
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