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: rs121907913
rs121907913
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C4310809
Disease:
ANTERIOR SEGMENT DYSGENESIS 5 		0.700 GeneticVariation UNIPROT Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. 12721955 2003
dbSNP: rs121907913
rs121907913
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C4310809
Disease:
ANTERIOR SEGMENT DYSGENESIS 5 		0.700 GeneticVariation UNIPROT Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies. 10441571 1999
dbSNP: rs121907913
rs121907913
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C4310809
Disease:
ANTERIOR SEGMENT DYSGENESIS 5 		0.700 GeneticVariation UNIPROT Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly. 8162071 1994