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: 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: C0428791
Disease: Aortic valve calcification
Aortic valve calcification 		0.400 Biomarker disease HPO
CUI: C0428791
Disease: Aortic valve calcification
Aortic valve calcification 		0.400 GermlineCausalMutation disease ORPHANET GATA5 loss-of-function mutations associated with congenital bicuspid aortic valve. 24638895 2014
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.340 Biomarker disease BEFREE Hypermethylated GATA5 was detected in plasma in 61.4% (35/57) of CRC cases, 43.33% (13/30) of adenoma cases, and 21.28% (10/47) of control cases. 25759530 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.340 Biomarker disease CTD_human GATA4 and GATA5 are potential tumor suppressors and biomarkers in colorectal cancer. 19509152 2009
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.340 Biomarker disease BEFREE Previously, we identified N-Myc downstream-regulated gene 4 (NDRG4) and GATA binding protein 5 (GATA5) methylation as promising biomarkers for colorectal cancer in stool DNA. 25538088 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.340 Biomarker disease BEFREE Aberrant methylation of CDH4 and/or GATA5 was detected in 45 of CRC tissue samples (83.3%) and identified in 23 pre sDNA samples (42.3%) from CRC patients. 24980446 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.340 Biomarker disease BEFREE GATA4 and GATA5 are potential tumor suppressors and biomarkers in colorectal cancer. 19509152 2009
CUI: C1260873
Disease: Aortic valve disorder
Aortic valve disorder 		0.300 GermlineCausalMutation disease ORPHANET GATA5 loss-of-function mutations associated with congenital bicuspid aortic valve. 24638895 2014
CUI: C1843687
Disease: ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder) 		0.300 GermlineCausalMutation disease ORPHANET Novel GATA5 loss-of-function mutations underlie familial atrial fibrillation. 23295592 2012
CUI: C1843687
Disease: ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder) 		0.300 GermlineCausalMutation disease ORPHANET A novel GATA5 loss-of-function mutation underlies lone atrial fibrillation. 23175127 2013
CUI: C1843687
Disease: ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder) 		0.300 GermlineCausalMutation disease ORPHANET Mutational spectrum of the GATA5 gene associated with familial atrial fibrillation. 22483626 2012
CUI: C3887892
Disease: Aortic Valve Disease 1
Aortic Valve Disease 1 		0.300 GermlineCausalMutation disease ORPHANET GATA5 loss-of-function mutations associated with congenital bicuspid aortic valve. 24638895 2014
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		0.200 Biomarker disease MGD Endothelial Gata5 transcription factor regulates blood pressure. 26617239 2015
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.120 Biomarker disease HPO
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.120 GeneticVariation disease BEFREE In this study, the coding exons and splice junctions of the GATA5 gene, which encodes a zinc-finger transcription factor essential for normal cardiogenesis, were sequenced in 118 unrelated patients with lone AF. 23175127 2013
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.120 GeneticVariation disease BEFREE The findings expand the spectrum of GATA5 mutations linked to AF and provide novel insights into the molecular mechanism involved in the pathogenesis of atrial fibrillation, suggesting potential implications for the early prophylaxis and personalized treatment of this common arrhythmia. 23295592 2012
CUI: C0003492
Disease: Aortic coarctation
Aortic coarctation 		0.110 Biomarker disease HPO
CUI: C0003492
Disease: Aortic coarctation
Aortic coarctation 		0.110 GeneticVariation disease BEFREE A cohort of 78 BAV patients (50 with isolated BAV and 28 with associated aortic coarctation) was analyzed using Sanger sequencing to identify GATA5 sequence variants. 24796370 2014
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		0.110 Biomarker disease HPO
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		0.110 Biomarker disease BEFREE Only 25% of double compound Gata4/Gata5 heterozygotes survive to adulthood and these mice have aortic stenosis. 21839733 2011
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency 		0.100 Biomarker disease HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0013069
Disease: Double Outlet Right Ventricle
Double Outlet Right Ventricle 		0.100 Biomarker disease HPO