Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886041222
rs886041222
PAX6
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		A 0.700 CausalMutation CLINVAR Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations. 28321846

2017
dbSNP: rs886041222
rs886041222
PAX6
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		A 0.700 CausalMutation CLINVAR Assessment of PAX6 alleles in 66 families with aniridia. 26661695

2016
dbSNP: rs886041222
rs886041222
PAX6
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		A 0.700 CausalMutation CLINVAR Aniridia. 22692063

2012
dbSNP: rs886041222
rs886041222
PAX6
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		A 0.700 CausalMutation CLINVAR Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders. 18483559

2008
dbSNP: rs886041222
rs886041222
PAX6
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		A 0.700 CausalMutation CLINVAR Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype. 10234503

1999