GATA4, GATA binding protein 4, 2626

N. diseases: 336; N. variants: 72
Disease: Familial (FPAH) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.060 GeneticVariation disease BEFREE GATA4 loss-of-function mutations underlie familial tetralogy of fallot. 24000169 2013
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.060 GeneticVariation disease BEFREE Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic hernia. 23138528 2013
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.060 Biomarker disease BEFREE Mutations in cardiac transcription factor genes, such as GATA-4, NKX2-5 and TBX5 genes, have been associated to the patients with familial and isolated congenital heart disease (CHD). 22885181 2012
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.060 GeneticVariation disease BEFREE A number of mutations in GATA4 and NKX2.5 have been identified to be causative for a subset of familial congenital heart defects (CHDs) and a small number of sporadic CHDs. 21110066 2010
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.060 AlteredExpression disease BEFREE Recent reports have identified mutations in the transcription factor GATA4 in familial cases of cardiac septal defects. 18055909 2007
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.060 GeneticVariation disease BEFREE Thus, the diagnostic importance of GATA4 mutations may be confined to familial cases or specific subgroups of CHD phenotypes. 17253934 2006