GATA4, GATA binding protein 4, 2626

N. diseases: 336; N. variants: 72
Disease: Congenital diaphragmatic hernia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs180765750
rs180765750
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C0235833
Disease:
Congenital diaphragmatic hernia 		0.010 GeneticVariation BEFREE Screening 96 additional CDH patients identified a de novo heterozygous GATA4 variant (c.848G>A; p.R283H) in a non-isolated CDH patient. 23138528 2013