TBX20, T-box transcription factor 20, 57057

N. diseases: 45; N. variants: 17
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 		0.030 GeneticVariation group BEFREE We search for TBX20 mutations in a group of patients with ASD or ventricular septal defect (VSD) using the High Resolution Melting (HRM) method and DNA sequencing. 25834824 2015
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.030 GeneticVariation group BEFREE In this study, we bi-directionally sequenced the promoter region of the TBX20 gene in 265 patients with ventricular septal defects (VSD) and 242 controls. 22465533 2012
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.030 AlteredExpression group BEFREE Mutation analysis did not reveal any disease causing sequence variation, however, TBX20 is significantly upregulated in tissue samples of patients with TOF, but not VSD. 18275040 2008