PAX6, paired box 6, 5080

N. diseases: 340; N. variants: 118
Disease: ANTERIOR SEGMENT DYSGENESIS 5 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554984996
rs1554984996
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C4310809
Disease:
ANTERIOR SEGMENT DYSGENESIS 5 		T 0.700 CausalMutation CLINVAR Investigation of a PAX6 gene mutation in a Malaysian family with congenital aniridia. 24737507 2014
dbSNP: rs1554984996
rs1554984996
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C4310809
Disease:
ANTERIOR SEGMENT DYSGENESIS 5 		T 0.700 CausalMutation CLINVAR A novel PAX6 gene mutation in a Chinese family with aniridia. 15889018 2005