GATA6, GATA binding protein 6, 2627

N. diseases: 259; N. variants: 21
Disease: Atrial Fibrillation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.030 GeneticVariation disease BEFREE Overall, we found gain-of-function mutations in GATA6 in both a family with early-onset AF and atrioventricular septal defects as well as in a family with sporadic, early-onset AF. 27756709 2017
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.030 GeneticVariation disease BEFREE In this study, the entire coding sequence and splice junctions of the GATA6 gene, which encodes a zinc-finger transcription factor crucial for cardiogenesis, were sequenced in 140 unrelated patients with lone AF. 22824924 2012
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.030 GeneticVariation disease BEFREE GATA6 loss-of-function mutation in atrial fibrillation. 22750565 2012