TBX1, T-box transcription factor 1, 6899

N. diseases: 417; N. variants: 14
Disease: Congenital defects ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220810
Disease: Congenital defects
Congenital defects 		0.030 Biomarker group BEFREE In recent years, through a variety of mouse mutants that carry multigene and single gene mutations, we have learned that mutation in a single gene, Tbx1, is responsible for most of the congenital defects seen in the mouse models and in patients. 16616724 2006
CUI: C0220810
Disease: Congenital defects
Congenital defects 		0.030 Biomarker group BEFREE Haploinsufficiency of Tbx1 is likely a major determinant of cardiac and craniofacial birth defects associated with DiGeorge syndrome. 12533514 2003
CUI: C0220810
Disease: Congenital defects
Congenital defects 		0.030 Biomarker group BEFREE Deletions within 22q11 have been associated with a wide variety of birth defects embraced by the acronym CATCH22 and including the DiGeorge syndrome, Shprintzen syndrome (velocardiofacial syndrome) and congenital heart disease. 7655455 1995