Gene: PAX6 ×
Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.530 GermlineCausalMutation disease ORPHANET A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation. 17595013 2007
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.530 Biomarker disease GENOMICS_ENGLAND Unlike the more common dominant and sporadic forms of aniridia, there have been no associated PAX6 mutations or Wilms' tumor reported in Gillespie syndrome patients. 17148041 2006
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.530 GermlineCausalMutation disease ORPHANET Unlike the more common dominant and sporadic forms of aniridia, there have been no associated PAX6 mutations or Wilms' tumor reported in Gillespie syndrome patients. 17148041 2006
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.530 Biomarker disease GENOMICS_ENGLAND Three novel aniridia mutations in the human PAX6 gene. 7550230 1995
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.530 Biomarker disease GENOMICS_ENGLAND Photoreactivation of superoxide dismutase by intensive red (laser) light. 2855731 1988