GATA4, GATA binding protein 4, 2626

N. diseases: 336; N. variants: 72
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs115099192
rs115099192
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C3280777
Disease:
VENTRICULAR SEPTAL DEFECT 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs115372595
rs115372595
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C3280781
Disease:
ATRIOVENTRICULAR SEPTAL DEFECT 4 		T 0.800 CausalMutation CLINVAR
dbSNP: rs115372595
rs115372595
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C3280781
Disease:
ATRIOVENTRICULAR SEPTAL DEFECT 4 		0.800 GeneticVariation UNIPROT
dbSNP: rs146017816
rs146017816
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C3280777
Disease:
VENTRICULAR SEPTAL DEFECT 1 		T 0.800 CausalMutation CLINVAR
dbSNP: rs368489876
rs368489876
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C3280777
Disease:
VENTRICULAR SEPTAL DEFECT 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs387906769
rs387906769
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C3280781
Disease:
ATRIOVENTRICULAR SEPTAL DEFECT 4 		T 0.800 CausalMutation CLINVAR
dbSNP: rs387906772
rs387906772
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C1842778
Disease:
Atrial septal defect 2 		G 0.800 CausalMutation CLINVAR
dbSNP: rs398122402
rs398122402
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C3809858
Disease:
TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE 		A 0.800 CausalMutation CLINVAR
dbSNP: rs56298569
rs56298569
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C1842778
Disease:
Atrial septal defect 2 		G 0.800 CausalMutation CLINVAR
dbSNP: rs387906769
rs387906769
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C0039685
Disease:
Tetralogy of Fallot 		0.710 GeneticVariation BEFREE Two novel mutations in the coding region of GATA4 were identified, namely, 487C >T (Pro163Ser) in exon 1 in a child with tetralogy of Fallot and 1220C >A (Pro407Gln) in exon 6 in a pediatric patient with outlet membranous ventricular septal defect. 21110066 2010
dbSNP: rs56208331
rs56208331
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C0039685
Disease:
Tetralogy of Fallot 		0.710 GeneticVariation BEFREE Two heterozygous missense mutations of c.1220C > A and c.1273G > A in GATA4 gene, which cause the amino acid residue changes of P407Q and D425N in GATA4, were found in a patient with tetralogy of Fallot and a patient with ventricular septal defect, respectively. 19302747 2009
dbSNP: rs387906769
rs387906769
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C0039685
Disease:
Tetralogy of Fallot 		T 0.710 CausalMutation CLINVAR
dbSNP: rs56208331
rs56208331
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C0039685
Disease:
Tetralogy of Fallot 		A 0.710 CausalMutation CLINVAR
dbSNP: rs28447194
rs28447194
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C0871470
Disease:
Systolic Pressure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs804281
rs804281
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C0202236
Disease:
Triglycerides measurement 		A 0.700 GeneticVariation GWASCAT Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity. 30670697 2019
dbSNP: rs36038176
rs36038176
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C0001948
Disease:
Alcohol consumption 		T 0.700 GeneticVariation GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962 2018
dbSNP: rs36038176
rs36038176
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C0871470
Disease:
Systolic Pressure 		T 0.700 GeneticVariation GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962 2018
dbSNP: rs3735814
rs3735814
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C0001948
Disease:
Alcohol consumption 		A 0.700 GeneticVariation GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962 2018
dbSNP: rs3735814
rs3735814
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C0871470
Disease:
Systolic Pressure 		A 0.700 GeneticVariation GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962 2018
dbSNP: rs10503425
rs10503425
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C0152021
Disease:
Congenital heart disease 		C 0.700 CausalMutation CLINVAR Congenital heart diseases and their association with the variant distribution features on susceptibility genes. 27426723 2017
dbSNP: rs113049875
rs113049875
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C0152021
Disease:
Congenital heart disease 		T 0.700 CausalMutation CLINVAR Congenital heart diseases and their association with the variant distribution features on susceptibility genes. 27426723 2017
dbSNP: rs116052854
rs116052854
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C0152021
Disease:
Congenital heart disease 		T 0.700 CausalMutation CLINVAR Congenital heart diseases and their association with the variant distribution features on susceptibility genes. 27426723 2017
dbSNP: rs12156163
rs12156163
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C0152021
Disease:
Congenital heart disease 		T 0.700 CausalMutation CLINVAR Congenital heart diseases and their association with the variant distribution features on susceptibility genes. 27426723 2017
dbSNP: rs12458
rs12458
Entrez Id: 2626;606553
Gene Symbol: GATA4;C8orf49
GATA4;C8orf49
CUI: C0152021
Disease:
Congenital heart disease 		T 0.700 CausalMutation CLINVAR Congenital heart diseases and their association with the variant distribution features on susceptibility genes. 27426723 2017
dbSNP: rs147860174
rs147860174
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C0152021
Disease:
Congenital heart disease 		A 0.700 CausalMutation CLINVAR Congenital heart diseases and their association with the variant distribution features on susceptibility genes. 27426723 2017