GATA4, GATA binding protein 4, 2626

N. diseases: 336; N. variants: 72
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.340 Biomarker disease CTD_human Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.340 GeneticVariation disease BEFREE As a result, two novel heterozygous GATA4 mutations (p.Y38D and p.P103A) were identified in 2 unrelated families with AF, respectively. 22552926 2012
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.340 GeneticVariation disease BEFREE Two novel heterozygous GATA4 mutations, p.S70T and p.S160T, were identified in 2 unrelated families with AF inherited as an autosomal dominant trait, respectively, which co-segregated with AF in each family with complete penetrance. 21708142 2011
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.340 GeneticVariation disease BEFREE As a result, two novel heterozygous GATA4 mutations of p.G16C and p.H28D, were identified in 2 unrelated families with AF, respectively, which co-segregated with AF in each family with complete penetrance. 21874226 2011
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.340 GeneticVariation disease BEFREE A second GATA4 mutation (A411V) was found in a female patient with sporadic lone AF. 20363377 2010