PAX6, paired box 6, 5080

N. diseases: 55; N. variants: 109
Disease: Aniridia ×
Source: CURATED ×
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0003076
Disease: Aniridia
Aniridia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 6 20 1.000 None 0.984 25 20 1978 2020