PAX6, paired box 6, 5080

N. diseases: 55; N. variants: 109
Disease: Optic Nerve Hypoplasia, Bilateral ×
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121907926
rs121907926
Entrez Id: 5080;26610
Gene Symbol: PAX6;ELP4
PAX6;ELP4
CUI: C1833797
Disease:
Optic Nerve Hypoplasia, Bilateral 		0.700 GeneticVariation UNIPROT Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. 12721955 2003
dbSNP: rs121907922
rs121907922
Entrez Id: 5080;26610
Gene Symbol: PAX6;ELP4
PAX6;ELP4
CUI: C1833797
Disease:
Optic Nerve Hypoplasia, Bilateral 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121907924
rs121907924
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C1833797
Disease:
Optic Nerve Hypoplasia, Bilateral 		A 0.700 CausalMutation CLINVAR
dbSNP: rs886041222
rs886041222
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C1833797
Disease:
Optic Nerve Hypoplasia, Bilateral 		A 0.700 CausalMutation CLINVAR