TBX20, T-box transcription factor 20, 57057

N. diseases: 45; N. variants: 17
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1969657
Disease: Atrial Septal Defect 4
Atrial Septal Defect 4 		0.700 Biomarker disease GENOMICS_ENGLAND A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects. 19762328 2010
CUI: C1969657
Disease: Atrial Septal Defect 4
Atrial Septal Defect 4 		0.700 GeneticVariation disease UNIPROT A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects. 19762328 2010
CUI: C1969657
Disease: Atrial Septal Defect 4
Atrial Septal Defect 4 		0.700 GeneticVariation disease UNIPROT Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy. 17668378 2007
CUI: C1969657
Disease: Atrial Septal Defect 4
Atrial Septal Defect 4 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy. 17668378 2007
CUI: C1969657
Disease: Atrial Septal Defect 4
Atrial Septal Defect 4 		0.700 CausalMutation disease CLINVAR
CUI: C1969657
Disease: Atrial Septal Defect 4
Atrial Septal Defect 4 		0.700 Biomarker disease CTD_human
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly 		0.300 Biomarker phenotype CTD_human A context-specific cardiac β-catenin and GATA4 interaction influences TCF7L2 occupancy and remodels chromatin driving disease progression in the adult heart. 29394407 2018
CUI: C0018801
Disease: Heart failure
Heart failure 		0.300 Biomarker disease CTD_human A context-specific cardiac β-catenin and GATA4 interaction influences TCF7L2 occupancy and remodels chromatin driving disease progression in the adult heart. 29394407 2018
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.300 Biomarker disease CTD_human A context-specific cardiac β-catenin and GATA4 interaction influences TCF7L2 occupancy and remodels chromatin driving disease progression in the adult heart. 29394407 2018
CUI: C0023212
Disease: Left-Sided Heart Failure
Left-Sided Heart Failure 		0.300 Biomarker disease CTD_human A context-specific cardiac β-catenin and GATA4 interaction influences TCF7L2 occupancy and remodels chromatin driving disease progression in the adult heart. 29394407 2018
CUI: C0235527
Disease: Heart Failure, Right-Sided
Heart Failure, Right-Sided 		0.300 Biomarker disease CTD_human A context-specific cardiac β-catenin and GATA4 interaction influences TCF7L2 occupancy and remodels chromatin driving disease progression in the adult heart. 29394407 2018
CUI: C0600519
Disease: Ventricular Remodeling
Ventricular Remodeling 		0.300 Biomarker phenotype CTD_human A context-specific cardiac β-catenin and GATA4 interaction influences TCF7L2 occupancy and remodels chromatin driving disease progression in the adult heart. 29394407 2018
CUI: C0600520
Disease: Left Ventricle Remodeling
Left Ventricle Remodeling 		0.300 Biomarker phenotype CTD_human A context-specific cardiac β-catenin and GATA4 interaction influences TCF7L2 occupancy and remodels chromatin driving disease progression in the adult heart. 29394407 2018
CUI: C1383860
Disease: Cardiac Hypertrophy
Cardiac Hypertrophy 		0.300 Biomarker phenotype CTD_human A context-specific cardiac β-catenin and GATA4 interaction influences TCF7L2 occupancy and remodels chromatin driving disease progression in the adult heart. 29394407 2018
CUI: C1959583
Disease: Myocardial Failure
Myocardial Failure 		0.300 Biomarker disease CTD_human A context-specific cardiac β-catenin and GATA4 interaction influences TCF7L2 occupancy and remodels chromatin driving disease progression in the adult heart. 29394407 2018
CUI: C1961112
Disease: Heart Decompensation
Heart Decompensation 		0.300 Biomarker phenotype CTD_human A context-specific cardiac β-catenin and GATA4 interaction influences TCF7L2 occupancy and remodels chromatin driving disease progression in the adult heart. 29394407 2018
CUI: C0344724
Disease: Ostium secundum atrial septal defect
Ostium secundum atrial septal defect 		0.300 GermlineCausalMutation disease ORPHANET A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects. 19762328 2010
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.220 Biomarker group BEFREE Formation of a TBX20-CASZ1 protein complex is protective against dilated cardiomyopathy and critical for cardiac homeostasis. 28945738 2017
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.220 Biomarker group BEFREE Role of cardiac TBX20 in dilated cardiomyopathy. 26895318 2016
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.220 Biomarker group MGD
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		0.100 AlteredExpression group BEFREE TBX20 is a crucial transcription factor for embryonic development, and its deficiency is associated with congenital heart disease. 29545372 2018
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		0.100 GeneticVariation group BEFREE Mutations in the transcription factor TBX20 (T-box 20) are associated with congenital heart disease. 29903739 2018
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.100 GeneticVariation disease GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778 2018
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		0.100 GeneticVariation group BEFREE A total of 223 ns-CHD patients and 273 healthy controls from China were selected as study subjects to perform an association analysis using 22 tag single-nucleotide polymorphisms (tag SNPs) located either in one of three genes in the Ras-MAPK pathway (MAP2K2, BRAF, and RAF1) or the TBX20 gene that have previously been associated with syndromic congenital heart disease. 28525297 2017