PAX6, paired box 6, 5080

N. diseases: 55; N. variants: 109
Disease: Coloboma of lens ×
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: C0344516
Disease: Coloboma of lens
Coloboma of lens 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 4 0.300 None 1.000 2 2003 2006