PAX6, paired box 6, 5080

N. diseases: 55; N. variants: 109
Disease: Hypoplasia of the optic nerve ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		0.400 GermlineCausalMutation disease ORPHANET Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. 12721955 2003