GATA6, GATA binding protein 6, 2627

N. diseases: 259; N. variants: 21
Disease: Coronary heart disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.050 GeneticVariation disease BEFREE Mutations in GATA6 gene have been associated with diverse types of CHD. 25036032 2014
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.050 GeneticVariation disease BEFREE In this study, the whole coding region of GATA6, a gene encoding a zinc-finger transcription factor crucial for normal cardiogenesis, was sequenced in 380 unrelated patients with CHD. 23020118 2012
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.050 GeneticVariation disease BEFREE These data suggest that nonsynonymous GATA6 sequence variants are infrequently found in individuals with CHD. 20581743 2010
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.050 GeneticVariation disease BEFREE Here, we screened the GATA6 in 270 individuals with sporadic CHDs by direct sequencing. 20631719 2010
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.050 GeneticVariation disease BEFREE Together, our data implicate mutations in GATA6 as genetic causes of CHD involving OFT development, as a result of the disruption of the direct regulation of semaphorin-plexin signaling. 19666519 2009