PAX6, paired box 6, 5080

N. diseases: 55; N. variants: 109
Disease: Congenital coloboma of iris ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		0.310 GermlineCausalMutation disease ORPHANET PAX6 missense mutations associated in patients with optic nerve malformation. 16604056 2006
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		0.310 GermlineCausalMutation disease ORPHANET Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. 12721955 2003