TBX6, T-box transcription factor 6, 6911

N. diseases: 52; N. variants: 11
Disease: Congenital hemivertebra ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		0.120 Biomarker disease BEFREE Recently, TBX6 on chromosome 16p11.2 was reported as a disease gene for CS; about 10% of Chinese CS patients were compound heterozygotes for rare null mutations and a common haplotype defined by three SNPs in TBX6.All patients had hemivertebrae. 28054739 2017
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		0.120 Biomarker disease BEFREE Hemivertebrae are characteristic of TBX6-associated congenital scoliosis. 25564734 2015
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		0.120 Biomarker disease HPO