PAX6, paired box 6, 5080

N. diseases: 55; N. variants: 109
Disease: Optic Nerve Hypoplasia, Bilateral ×
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: C1833797
Disease: Optic Nerve Hypoplasia, Bilateral
Optic Nerve Hypoplasia, Bilateral 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 1 4 0.700 None 1.000 4 4 1988 2006