GATA5, GATA binding protein 5, 140628

N. diseases: 101; N. variants: 12
Disease: Ventricular Septal Defects ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.130 GeneticVariation group BEFREE In this study, GATA5 gene promoter was genetically and functionally analyzed in large cohorts of patients with ventricular septal defect (VSD) (n=343) and ethnic-matched healthy controls (n=348). 25515806 2014
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.130 GeneticVariation group BEFREE In this study, the whole coding region of GATA5, a gene encoding a zinc finger transcription factor crucial for normal cardiogenesis, was sequenced in 120 unrelated patients with VSD. 22961344 2013
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.130 GeneticVariation group BEFREE Compound loss of a Gata5 and a Gata6 allele also leads to DORVs associated with subaortic VSDs. 21839733 2011
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.130 Biomarker group HPO