Gene: ELP4 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 26610
Gene Symbol: ELP4
ELP4 		0.100 CausalMutation disease CLINVAR PAX6 molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia. 29618921 2018
Entrez Id: 26610
Gene Symbol: ELP4
ELP4 		0.100 CausalMutation disease CLINVAR Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations. 28321846 2017
Entrez Id: 26610
Gene Symbol: ELP4
ELP4 		0.100 CausalMutation disease CLINVAR Identification of a novel frameshift heterozygous deletion in exon 8 of the PAX6 gene in a pedigree with aniridia. 27431685 2016
Entrez Id: 26610
Gene Symbol: ELP4
ELP4 		0.100 CausalMutation disease CLINVAR Missense mutations in the DNA-binding region and termination codon in PAX6. 12552561 2003
Entrez Id: 26610
Gene Symbol: ELP4
ELP4 		0.100 CausalMutation disease CLINVAR Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function. 11309364 2001