All diseases

5 entries on 1 page. Showing entries 1 - 5.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
04230 ACHM achromatopsia (ACHM) - - 105 104 ATF6, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H - -
02016 ACHM3 achromatopsia, type 3 262300 AR 35 34 CNGB3 - -
00112 RP retinitis pigmentosa (RP) 268000 - 1159 897 ADCK4, ARL3, BEST1, CC2D2A, CNGB1, DHDDS, EYS, HKDC1, IDH3A, IMPG1, KIF3B, NR2E3, POC5, PRPF8, RNU4-2, RNU6-1, RNU6-2, RNU6-8, RNU6-9, SLC7A14, SMG8, TMEM216 - -
03426 RP45 retinitis pigmentosa, type 45 (RP45) 613767 AR - - CNGB1 - -
00420 STGD1 Stargardt disease, type 1 (STGD1) 248200 AR 3224 3092 ABCA4, CNGB3 - -
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