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: rs368418329
rs368418329
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C0013274
Disease:
Patent ductus arteriosus
0.010 GeneticVariation BEFREE Venous blood samples from 150 congenital heart disease children (including a ventricular septal defect, atrial septal defect, tetralogy of Fallot, and patent ductus arteriosus) and 90 apparently healthy of matched age and sex were studied by polymerase chain reaction followed by direct sequencing in order to study two single-nucleotide variants of NKX2-5 (rs2277923, rs28936670), two single-nucleotide variants of GATA4 (rs368418329, rs56166237) and one single-nucleotide variant TBX5 (rs6489957). 30834692 2019
dbSNP: rs56166237
rs56166237
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C0013274
Disease:
Patent ductus arteriosus
0.010 GeneticVariation BEFREE Venous blood samples from 150 congenital heart disease children (including a ventricular septal defect, atrial septal defect, tetralogy of Fallot, and patent ductus arteriosus) and 90 apparently healthy of matched age and sex were studied by polymerase chain reaction followed by direct sequencing in order to study two single-nucleotide variants of NKX2-5 (rs2277923, rs28936670), two single-nucleotide variants of GATA4 (rs368418329, rs56166237) and one single-nucleotide variant TBX5 (rs6489957). 30834692 2019