All diseases

10 entries on 1 page. Showing entries 1 - 10.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
01258 - Coloboma of optic disc 120430 - - - PAX6 - -
01335 - Foveal hypoplasia and presenile cataract syndrome 136520 - - - PAX6 - -
01402 - keratitis, hereditary 148190 - - - PAX6 - -
01478 - hypoplasia, optic nerve, bilateral 165550 - - - PAX6 - -
01657 - aniridia, cerebellar ataxia, and mental retardation (Gillespie syndrome) 206700 - - - PAX6 - -
01178 AN aniridia, congenital (AN) 106210 - - - ELP4, PAX6 - -
00139 ID intellectual disability (ID) - - - - AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 515 more - -
02487 Peters Peters anomaly 604229 - - - CYP1B1, PAX6, PITX2 - -
01610 WAGR Wilms tumor, aniridia, genitourinary anomalies, mental retardation syndrome (WAGR, 11p partial monosomy syndrome) 194072 - - - PAX6, WT1 - -
00953 WAGRO Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome (WAGRO) - - - - BDNF, PAX6, WT1 - -
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