TBX1, T-box transcription factor 1, 6899

N. diseases: 417; N. variants: 14
Disease: Contiguous gene syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1855496
Disease: Contiguous gene syndrome
Contiguous gene syndrome 		0.010 Biomarker disease BEFREE Thus, we suggest that del22q11 is a contiguous gene syndrome involving dose-sensitive interaction of CRKL and TBX1 and locally aberrant RA signaling. 16399080 2006