rs121907922, ELP4;PAX6

N. diseases: 12
Source: ALL
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 PAX6 molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia. 29618921 2018
ANTERIOR SEGMENT DYSGENESIS 5
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
0.700 CausalMutation CLINVAR PAX6 molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia. 29618921 2018
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
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 Identification of a novel frameshift heterozygous deletion in exon 8 of the PAX6 gene in a pedigree with aniridia. 27431685 2016
Aniridia type 1
CUI: C0344542
Disease: Aniridia type 1
0.700 CausalMutation CLINVAR Identification of a novel frameshift heterozygous deletion in exon 8 of the PAX6 gene in a pedigree with aniridia. 27431685 2016
ANTERIOR SEGMENT DYSGENESIS 5
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
0.700 CausalMutation CLINVAR Missense mutations in the DNA-binding region and termination codon in PAX6. 12552561 2003
Aniridia type 1
CUI: C0344542
Disease: Aniridia type 1
0.700 CausalMutation CLINVAR Missense mutations in the DNA-binding region and termination codon in PAX6. 12552561 2003
Aniridia type 1
CUI: C0344542
Disease: Aniridia type 1
0.700 CausalMutation CLINVAR Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function. 11309364 2001
ANTERIOR SEGMENT DYSGENESIS 5
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
0.700 CausalMutation CLINVAR Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function. 11309364 2001
FOVEAL HYPOPLASIA 1
CUI: C3805604
Disease: FOVEAL HYPOPLASIA 1
0.700 CausalMutation CLINVAR
Aniridia
CUI: C0003076
Disease: Aniridia
0.700 CausalMutation CLINVAR
Low Vision
CUI: C0042798
Disease: Low Vision
0.700 GeneticVariation CLINVAR
Congenital ocular coloboma (disorder)
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
0.700 CausalMutation CLINVAR
Keratitis, hereditary
CUI: C1835698
Disease: Keratitis, hereditary
0.700 CausalMutation CLINVAR
WAGR Syndrome
CUI: C0206115
Disease: WAGR Syndrome
0.700 CausalMutation CLINVAR
Optic Nerve Hypoplasia, Bilateral
CUI: C1833797
Disease: Optic Nerve Hypoplasia, Bilateral
0.700 CausalMutation CLINVAR
Coloboma of optic disc
CUI: C0155299
Disease: Coloboma of optic disc
0.700 CausalMutation CLINVAR
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
0.700 GeneticVariation CLINVAR
Nystagmus
CUI: C0028738
Disease: Nystagmus
0.700 GeneticVariation CLINVAR