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