All diseases

8 entries on 1 page. Showing entries 1 - 8.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
03238 - neurodegeneration due to cerebral folate deficiency 613068 AR 1 1 FOLR1 - autosomal recessive
04620 AFDCIN dysostosis, acrofacial, Cincinnati type (AFDCIN) 616462 AD - - POLR1A - -
04621 HLD11 leukodystrophy, hypomyelinating, type 11 (HLD-11) 616494 AR - - POLR1C - -
00139 ID intellectual disability (ID) - - 2694 2376 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
02760 MCI1 myocardial infarction, susceptibility to, type 1 (MCI-1) 608446 - 41 2 ESR1, F13A1, F7, GCLC, GCLM, ITGB3, LGALS2, LTA, MIAT, OLR1, PSMA6, TNFSF4 - -
05668 TCS Treacher Collins syndrome - - 272 268 POLR1C, POLR1D - -
00978 TCS2 Treacher Collins syndrome, type 2 (TCS-2) 613717 AD;AR - - POLR1D - -
00912 TCS3 Treacher Collins syndrome, type 3 (TCS-3) 248390 AR - - POLR1C - -
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