GATA5, GATA binding protein 5, 140628

N. diseases: 101; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4693563
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5 		0.600 GeneticVariation disease UNIPROT GATA5 loss-of-function mutation in familial dilated cardiomyopathy. 25543888 2015
CUI: C4693563
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5 		0.600 GeneticVariation disease UNIPROT Somatic GATA5 mutations in sporadic tetralogy of Fallot. 24573614 2014
CUI: C4693563
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5 		0.600 GeneticVariation disease UNIPROT GATA5 loss-of-function mutations associated with congenital bicuspid aortic valve. 24638895 2014
CUI: C4693563
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5 		0.600 GeneticVariation disease UNIPROT GATA5 loss-of-function mutation responsible for the congenital ventriculoseptal defect. 22961344 2013
CUI: C4693563
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5 		0.600 GeneticVariation disease UNIPROT GATA5 loss-of-function mutations underlie tetralogy of fallot. 23289003 2013
CUI: C4693563
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5 		0.600 GeneticVariation disease UNIPROT Prevalence and spectrum of GATA5 mutations associated with congenital heart disease. 23031282 2013
CUI: C4693563
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5 		0.600 GeneticVariation disease UNIPROT A novel GATA5 loss-of-function mutation underlies lone atrial fibrillation. 23175127 2013
CUI: C4693563
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5 		0.600 GeneticVariation disease UNIPROT Rare non-synonymous variations in the transcriptional activation domains of GATA5 in bicuspid aortic valve disease. 22641149 2012
CUI: C4693563
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5 		0.600 GeneticVariation disease UNIPROT Novel GATA5 loss-of-function mutations underlie familial atrial fibrillation. 23295592 2012
CUI: C4693563
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5 		0.600 GeneticVariation disease UNIPROT Mutational spectrum of the GATA5 gene associated with familial atrial fibrillation. 22483626 2012
CUI: C4693563
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C4693563
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5 		0.600 CausalMutation disease CLINVAR
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.480 Biomarker disease BEFREE NOTCH1, SMAD6, and GATA5 are associated with BAV in humans, but few cases have been reported that did not involve NOTCH1. 30848080 2019
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.480 GeneticVariation disease BEFREE This study associates additional genetic variants in GATA4 and GATA5 with BAV, supporting the implication of these genes in the development of this valvulopathy. 30229885 2018
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.480 Biomarker disease BEFREE Other candidate genes have been suggested based on the presence of BAV in knockout mouse models (e.g., <i>GATA5, NOS3</i>) or in syndromic (e.g., <i>TGFBR1/2, TGFB2/3</i>) or non-syndromic (e.g., <i>ACTA2</i>) TAA forms. 28659821 2017
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.480 GeneticVariation disease BEFREE Rare sequence variants in GATA5 are associated with human BAV. 24796370 2014
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.480 GermlineCausalMutation disease ORPHANET As a result, two novel heterozygous GATA5 mutations, p.Y16D and p.T252P, were identified in two families with autosomal dominant inheritance of BAV, respectively. 24638895 2014
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.480 Biomarker disease BEFREE While BAV is known to be highly heritable, mutations in single genes (such as GATA5 and NOTCH1) have been reported in few human BAV cases. 25260786 2014
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.480 GeneticVariation disease BEFREE In the present study, the coding regions and splice junction sites of the GATA5 gene, which codes for a zinc-finger transcription factor crucial for the normal development of the aortic valve, was sequenced initially in 110 unrelated patients with BAV. 24638895 2014
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.480 GeneticVariation disease BEFREE Here, we investigated the relationship between GATA5 gene variants and BAV with its associated aortopathy. 22641149 2012
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.480 GeneticVariation disease BEFREE Endocardial cell-specific inactivation of Gata5 led to BAV, similar to that observed in Gata5-/- mice. 21633169 2011
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.480 Biomarker disease HPO
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.420 GeneticVariation disease BEFREE In the present study, sequence analysis of the coding exons and exon-intron boundaries of GATA5, a gene encoding a zinc finger‑containing transcriptional factor crucial for cardiogenesis, was performed on genomic DNA isolated from resected cardiac tissue and matched blood samples of 85 unrelated patients who underwent surgical repair of TOF. 24573614 2014
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.420 GeneticVariation disease BEFREE GATA5 loss-of-function mutations underlie tetralogy of fallot. 23289003 2013
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.420 GermlineCausalMutation disease ORPHANET GATA5 loss-of-function mutations underlie tetralogy of fallot. 23289003 2013