TBX1, T-box transcription factor 1, 6899

N. diseases: 417; N. variants: 14
Disease: Coronary heart disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.040 Biomarker disease BEFREE Women with CHD such as pulmonary hypertension (Eisenmenger syndrome), severe left ventricular outflow stenosis, cyanotic CHD, aortopathy, Fontan procedure and systemic right ventricle (complete transposition of the great arteries [TGA] after atrial switch, congenitally corrected TGA) carry a high-risk. 29625509 2018
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.040 AlteredExpression disease BEFREE PCR and western blotting demonstrated that TBX1 expression may be associated with CHD. 29568912 2018
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.040 GeneticVariation disease BEFREE In this study, the coding exons and splice junction sites of the TBX1 gene, which encodes a T-box homeodomain transcription factor essential for proper cardiovascular morphogenesis, were sequenced in 230 unrelated children with CHD. 25860641 2015
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.040 AlteredExpression disease BEFREE We hypothesized that the sequence variants within TBX1 gene promoter region may change TBX1 levels and mediate CHD development. 22801995 2012