TBX1, T-box transcription factor 1, 6899

N. diseases: 417; N. variants: 14
Disease: Congenital anomaly of aortic arch ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0158629
Disease: Congenital anomaly of aortic arch
Congenital anomaly of aortic arch 		0.010 GeneticVariation disease BEFREE Aortic arch anomalies associated with chromosome 22q11 deletion (CATCH 22). 9986884 1999