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: rs1057517785
rs1057517785
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C4310809
Disease:
ANTERIOR SEGMENT DYSGENESIS 5 		A 0.700 CausalMutation CLINVAR Assessment of PAX6 alleles in 66 families with aniridia. 26661695 2016
dbSNP: rs1057517785
rs1057517785
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C4310809
Disease:
ANTERIOR SEGMENT DYSGENESIS 5 		A 0.700 CausalMutation CLINVAR Aniridia. 22692063 2012
dbSNP: rs1057517785
rs1057517785
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C4310809
Disease:
ANTERIOR SEGMENT DYSGENESIS 5 		A 0.700 CausalMutation CLINVAR A case of aniridia with unilateral Peters anomaly. 21397818 2011
dbSNP: rs1057517785
rs1057517785
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C4310809
Disease:
ANTERIOR SEGMENT DYSGENESIS 5 		A 0.700 CausalMutation CLINVAR Eye anomalies and neurological manifestations in patients with PAX6 mutations. 19898691 2009
dbSNP: rs1057517785
rs1057517785
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C4310809
Disease:
ANTERIOR SEGMENT DYSGENESIS 5 		A 0.700 CausalMutation CLINVAR Safe blood? HTLV-1 infection is crippling. 8111279 1994