TBX1, T-box transcription factor 1, 6899

N. diseases: 417; N. variants: 14
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 		0.140 GeneticVariation group BEFREE A novel heterozygous TBX1 mutation, p.S233Y, was identified in a patient with transposition of the great arteries (TGA) and a ventricular septal defect. 29250159 2018
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.140 GeneticVariation group BEFREE As a result, a novel heterozygous TBX1 mutation, p.Q277X, was identified in an index patient with double outlet right ventricle (DORV) and ventricular septal defect (VSD). 25860641 2015
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.140 Biomarker group BEFREE TBX1) in a spectrum of ventricular septal defects located at the level of the outflow tract.At the venous pole (e.g. 25307363 2014
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.140 GeneticVariation group BEFREE Mutations in the coding regions of TBX1 gene have been associated to 22q11 deletion syndrome with cardiac defects and isolated CHD cases, including ventricular septal defect (VSD). 22801995 2012
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.140 Biomarker group HPO