TBX1, T-box transcription factor 1, 6899

N. diseases: 417; N. variants: 14
Disease: 3C syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796137
Disease: 3C syndrome
3C syndrome 		0.010 Biomarker disease BEFREE This observation confirms the previous finding of cerebellar anomalies in Shprintzen syndrome, and suggests an overlap between the VCFS and 3C syndrome. 8870617 1996