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: C0003076
Disease: Aniridia
Aniridia 		1.000 GermlineCausalMutation ORPHANET Twelve aniridia patients, five with a family history and seven presumed to be sporadic, were exhaustively screened in order to test what proportion of people with aniridia, uncomplicated by associated anomalies, carry mutations in the human PAX6 gene. 9138149

1997