Orphanet: GATA binding protein 4

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GATA4 - GATA binding protein 4

Synonym(s) :
Previous symbols and names : GATA-binding protein 4
Type : gene with protein product
Chromosomal location : 8p23.1
OMIM: 600576
HGNC: 4173
UniProtKB: P43694
Genatlas: GATA4
GenCC: GATA4
Ensembl: ENSG00000136574
IUPHAR-DB: -
Reactome: P43694
LOVD: GATA4

Diseases list

Disease-causing germline mutation(s) in Atrial septal defect, ostium secundum type ORPHA:99103
Disease-causing germline mutation(s) in Complete atrioventricular septal defect-tetralogy of Fallot ORPHA:99068
Disease-causing germline mutation(s) in Complete atrioventricular septal defect with ventricular hypoplasia ORPHA:99067
Disease-causing germline mutation(s) in NON RARE IN EUROPE: Ventricular septal defect ORPHA:1480
Disease-causing germline mutation(s) (loss of function) in 46,XY partial gonadal dysgenesis ORPHA:251510
Disease-causing germline mutation(s) (loss of function) in Familial atrial fibrillation ORPHA:334
Disease-causing germline mutation(s) (loss of function) in Partial atrioventricular septal defect with ventricular hypoplasia ORPHA:576232
Disease-causing germline mutation(s) (loss of function) in Tetralogy of Fallot ORPHA:3303
Role in the phenotype of 8p23.1 microdeletion syndrome ORPHA:251071

: Assessed

Gene included in a panel of genes performed as part of a diagnostic test

Additional information

Patient-centred resources for this gene

Diagnostic tests (111)

Research activities on this gene

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