TBX6, T-box transcription factor 6, 6911

N. diseases: 52; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5 		0.900 GeneticVariation disease UNIPROT TBX6 null variants and a common hypomorphic allele in congenital scoliosis. 25564734 2015
CUI: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5 		0.900 CausalMutation disease CLINVAR TBX6 null variants and a common hypomorphic allele in congenital scoliosis. 25564734 2015
CUI: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5 		0.900 CausalMutation disease CLINVAR Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6. 23335591 2013
CUI: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5 		0.900 GeneticVariation disease UNIPROT Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6. 23335591 2013
CUI: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5 		0.900 Biomarker disease MGD Development of rib-vertebrae: a new mutation in the house mouse with accessory caudal duplications. 4073528 1985
CUI: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5 		0.900 Biomarker disease CTD_human
CUI: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome 		0.520 GeneticVariation disease BEFREE Besides, a single three-generation family with spondylocostal dysostosis (SCD) was reported with a heterozygous stop-loss of TBX6. 27861764 2017
CUI: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome 		0.520 GeneticVariation disease BEFREE Lefebvre et al in this journal reported that 2 patients with spondylocostal dysostosis (SCD), a rare skeletal dysplasia affecting spine and ribs also have TBX6 mutations: 1 carried the microdeletion and a rare missense variant, and another 2 rare missense variants. 28990171 2017
CUI: C4274761
Disease: Autosomal dominant spondylocostal dysostosis
Autosomal dominant spondylocostal dysostosis 		0.520 GeneticVariation disease BEFREE A heterozygous TBX6 loss-of-function mutation has been reported in a family with autosomal-dominant spondylocostal dysostosis, but it may represent a spectrum of the same disease with TACS. 28054739 2017
CUI: C4274761
Disease: Autosomal dominant spondylocostal dysostosis
Autosomal dominant spondylocostal dysostosis 		0.520 GermlineCausalMutation disease ORPHANET Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6. 23335591 2013
CUI: C4274761
Disease: Autosomal dominant spondylocostal dysostosis
Autosomal dominant spondylocostal dysostosis 		0.520 GeneticVariation disease BEFREE Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6. 23335591 2013
CUI: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome 		0.520 Biomarker disease MGD Development of rib-vertebrae: a new mutation in the house mouse with accessory caudal duplications. 4073528 1985
CUI: C4274761
Disease: Autosomal dominant spondylocostal dysostosis
Autosomal dominant spondylocostal dysostosis 		0.520 Biomarker disease MGD Development of rib-vertebrae: a new mutation in the house mouse with accessory caudal duplications. 4073528 1985
CUI: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome 		0.520 Biomarker disease GENOMICS_ENGLAND
CUI: C1968949
Disease: Cakut
Cakut 		0.320 GeneticVariation disease BEFREE Interestingly, we identified two heterozygous noncoding variants of TBX6 in sporadic subjects with CAKUT: one is c.769-7delT, from a subject with duplex renal and collecting system, and the other is a 3' untranslated region (3'-UTR) variant (c.1392C>T) from a subject with unilateral renal hypoplasia. 30604070 2019
CUI: C1968949
Disease: Cakut
Cakut 		0.320 Biomarker disease CTD_human The copy number variation landscape of congenital anomalies of the kidney and urinary tract. 30578417 2019
CUI: C1968949
Disease: Cakut
Cakut 		0.320 Biomarker disease BEFREE Using a multidisciplinary approach, we identified TBX6 as a driver for the CAKUT subphenotypes in the 16p11.2 microdeletion syndrome. 30578417 2019
CUI: C1837549
Disease: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2 		0.200 Biomarker disease MGD Development of rib-vertebrae: a new mutation in the house mouse with accessory caudal duplications. 4073528 1985
CUI: C1853296
Disease: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3 		0.200 Biomarker disease MGD Development of rib-vertebrae: a new mutation in the house mouse with accessory caudal duplications. 4073528 1985
CUI: C3150942
Disease: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE 		0.200 Biomarker disease MGD Development of rib-vertebrae: a new mutation in the house mouse with accessory caudal duplications. 4073528 1985
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
CUI: C0559260
Disease: Congenital scoliosis
Congenital scoliosis 		0.100 GeneticVariation disease BEFREE We previously reported that TBX6 loss-of-function causes CS in a compound heterozygous model; however, this model can explain only 10% of CS. 31827250 2020