Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.600 Biomarker GENOMICS_ENGLAND Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation. 17148041

2006
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.600 Biomarker GENOMICS_ENGLAND Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. 12721955

2003
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.600 Biomarker GENOMICS_ENGLAND Three novel aniridia mutations in the human PAX6 gene. 7550230

1995
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.600 Biomarker GENOMICS_ENGLAND Photoreactivation of superoxide dismutase by intensive red (laser) light. 2855731

1988