PAX6, paired box 6, 5080

N. diseases: 55; N. variants: 109
Disease: Coloboma of eyelid ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0521573
Disease: Coloboma of eyelid
Coloboma of eyelid 		0.300 GermlineCausalMutation phenotype ORPHANET PAX6 missense mutations associated in patients with optic nerve malformation. 16604056 2006
CUI: C0521573
Disease: Coloboma of eyelid
Coloboma of eyelid 		0.300 GermlineCausalMutation phenotype ORPHANET Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. 12721955 2003