TBX6, T-box transcription factor 6, 6911

N. diseases: 52; N. variants: 11
Disease: Deformity ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0302142
Disease: Deformity
Deformity 		0.020 Biomarker group BEFREE Hemivertebra was not a specific type of spinal malformation in TBX6-associated CS (TACS). 28054739 2017
CUI: C0302142
Disease: Deformity
Deformity 		0.020 GeneticVariation group BEFREE This suggests that haploinsufficiency of TBX6 can lead to vertebral malformation in low penetrance. 19770079 2010