rs121907922, ELP4;PAX6

N. diseases: 12
Disease: Aniridia type 1 ×
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
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
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
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