PAX6, paired box 6, 5080

N. diseases: 55; N. variants: 109
Disease: Aniridia type 1 ×
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131692304
rs1131692304
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C0344542
Disease:
Aniridia type 1 		A 0.700 CausalMutation CLINVAR Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations. 28321846 2017
dbSNP: rs1131692304
rs1131692304
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C0344542
Disease:
Aniridia type 1 		A 0.700 CausalMutation CLINVAR PAX6 mutations reviewed. 9482572 1998