PAX6, paired box 6, 5080

N. diseases: 340; N. variants: 118
Disease: Aniridia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131692297
rs1131692297
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C0003076
Disease:
Aniridia 		0.010 GeneticVariation BEFREE We identified a recurrent PAX6 c.307C>T mutation in an aniridia and congenital progressive cataract family, and summarized the variable phenotypes among the patients, which expanded the phenotypic spectrum of aniridia in a different ethnic background. 22393272 2012