All diseases

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

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00347 ARMD macular degeneration, age-related (ARMD) - 1 1 ABCA4, CFH, FBLN5, HMCN1 - -
01425 ARMD-2 macular degeneration, age-related, type 2 (ARMD-2) 153800 1 1 ABCA4 - -
00421 CORD-3 dystrophy, cone rod, type 3 (CORD-3) 604116 5 5 ABCA4 - -
00156 CSS Coffin-Siris syndrome (CSS) - 220 188 ARID1A, ARID1B, ARID2, SMARCA4, SMARCB1, SMARCE1 - -
01018 CSS-4;MRD-16 Coffin-Siris syndrome, type 4 (CSS-4, mental retardation, autosomal dominant, type 16 (MRD-16)) 614609 0 0 SMARCA4 - autosomal dominant
02318 RP-17 retinitis pigmentosa, type 17 (RP-17) 600852 0 0 CA4 - -
02387 RP-19 retinitis pigmentosa, type 19 (RP-19) 601718 0 0 ABCA4 - -
01017 RTPS-2 tumor, rhabdoid, predisposition syndrome, type 2 (RTPS-2) 613325 8 8 SMARCA4 - -
00420 STGD-1 Stargardt disease, type 1 (STGD-1) 248200 2772 2740 ABCA4, CNGB3 - -