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: rs1554982609
rs1554982609
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C4310809
Disease:
ANTERIOR SEGMENT DYSGENESIS 5 		GGAGTA 0.700 CausalMutation CLINVAR Mutation in the PAX6 gene in twenty patients with aniridia. 10737978 2000