TBX1, T-box transcription factor 1, 6899

N. diseases: 417; N. variants: 14
Disease: ATRIOVENTRICULAR CANAL DEFECT ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT 		0.010 AlteredExpression disease BEFREE Furthermore, retinoic acid (RA) signaling is required for Tbx5 activation in Tbx1-positive cells and blocking RA signaling at the time of Tbx5 activation results in atrioventricular septal defects at fetal stages. 30016433 2018