All diseases

11 entries on 1 page. Showing entries 1 - 11.
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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 AD - - PAX6 - -
01478 - hypoplasia, optic nerve, bilateral 165550 AD 2 1 PAX6 - -
01178 AN aniridia (AN) - - 43 42 ELP4, PAX6, TRIM44 - -
05622 AN1 aniridia, type 1 (cataract with late-onset corneal dystrophy) 106210 AD 2 2 PAX6 - autosomal dominant
02487 ASGD5 dysgenesis, anterior segment, type 5, multiple subtypes 604229 AD 5 5 CYP1B1, PAX6, PITX2 - -
01335 FVH1 Foveal hypoplasia 1 136520 AD - 1 PAX6 - -
01657 GLSP Gillespie syndrome 206700 AD;AR 21 21 PAX6 - -
00139 ID intellectual disability (ID) - - 2695 2377 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
01402 keratitis keratitis, hereditary 148190 AD - - PAX6 - -
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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