rs886041222, PAX6

N. diseases: 8
Source: CURATED ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Aniridia type 1
CUI: C0344542
Disease: Aniridia type 1
0.700 CausalMutation CLINVAR Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations. 28321846 2017
ANTERIOR SEGMENT DYSGENESIS 5
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
0.700 CausalMutation CLINVAR Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations. 28321846 2017
ANTERIOR SEGMENT DYSGENESIS 5
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
0.700 CausalMutation CLINVAR Assessment of PAX6 alleles in 66 families with aniridia. 26661695 2016
Aniridia type 1
CUI: C0344542
Disease: Aniridia type 1
0.700 CausalMutation CLINVAR Assessment of PAX6 alleles in 66 families with aniridia. 26661695 2016
ANTERIOR SEGMENT DYSGENESIS 5
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
0.700 CausalMutation CLINVAR Aniridia. 22692063 2012
Aniridia type 1
CUI: C0344542
Disease: Aniridia type 1
0.700 CausalMutation CLINVAR Aniridia. 22692063 2012
Aniridia type 1
CUI: C0344542
Disease: Aniridia type 1
0.700 CausalMutation CLINVAR Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders. 18483559 2008
ANTERIOR SEGMENT DYSGENESIS 5
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
0.700 CausalMutation CLINVAR Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders. 18483559 2008
Aniridia type 1
CUI: C0344542
Disease: Aniridia type 1
0.700 CausalMutation CLINVAR Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype. 10234503 1999
ANTERIOR SEGMENT DYSGENESIS 5
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
0.700 CausalMutation CLINVAR Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype. 10234503 1999
Keratitis, hereditary
CUI: C1835698
Disease: Keratitis, hereditary
0.700 CausalMutation CLINVAR
WAGR Syndrome
CUI: C0206115
Disease: WAGR Syndrome
0.700 CausalMutation CLINVAR
Coloboma of optic disc
CUI: C0155299
Disease: Coloboma of optic disc
0.700 CausalMutation CLINVAR
FOVEAL HYPOPLASIA 1
CUI: C3805604
Disease: FOVEAL HYPOPLASIA 1
0.700 CausalMutation CLINVAR
Optic Nerve Hypoplasia, Bilateral
CUI: C1833797
Disease: Optic Nerve Hypoplasia, Bilateral
0.700 CausalMutation CLINVAR
Congenital ocular coloboma (disorder)
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
0.700 CausalMutation CLINVAR