GATA4, GATA binding protein 4, 2626

N. diseases: 336; N. variants: 72
Disease: Heart Septal Defects ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1406275331
rs1406275331
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C0018816
Disease:
Heart Septal Defects 		0.010 GeneticVariation BEFREE Two novel heterozygous mutations were discovered in the GATA4 gene in five children with cardiac septal defects (10%, 5/50), His28Tyr in exon 2 and His436Tyr in exon 7, respectively, which were neither found in the control population nor reported in the SNP database at the website http://www.ncbi.nlm.nih.gov/SNP. 19915893 2010