PAX6, paired box 6, 5080

N. diseases: 55; N. variants: 109
Disease: ANTERIOR SEGMENT DYSGENESIS 5 ×
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123295
rs398123295
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C4310809
Disease:
ANTERIOR SEGMENT DYSGENESIS 5 		T 0.700 CausalMutation CLINVAR Assessment of PAX6 alleles in 66 families with aniridia. 26661695 2016
dbSNP: rs398123295
rs398123295
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C4310809
Disease:
ANTERIOR SEGMENT DYSGENESIS 5 		T 0.700 CausalMutation CLINVAR Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects. 12634864 2003
dbSNP: rs398123295
rs398123295
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C4310809
Disease:
ANTERIOR SEGMENT DYSGENESIS 5 		T 0.700 CausalMutation CLINVAR PAX6 mutations in aniridia. 8364574 1993