Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C0521573
Disease: Coloboma of eyelid
Coloboma of eyelid 		0.300 GermlineCausalMutation ORPHANET PAX6 missense mutations associated in patients with optic nerve malformation. 16604056

2006
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C0521573
Disease: Coloboma of eyelid
Coloboma of eyelid 		0.300 GermlineCausalMutation ORPHANET Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. 12721955

2003