TBXT, T-box transcription factor T, 6862

N. diseases: 41; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3810343
Disease: SACRAL AGENESIS WITH VERTEBRAL ANOMALIES
SACRAL AGENESIS WITH VERTEBRAL ANOMALIES 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal. 24253444 2014
CUI: C3810343
Disease: SACRAL AGENESIS WITH VERTEBRAL ANOMALIES
SACRAL AGENESIS WITH VERTEBRAL ANOMALIES 		0.700 GeneticVariation disease UNIPROT Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal. 24253444 2014
CUI: C3810343
Disease: SACRAL AGENESIS WITH VERTEBRAL ANOMALIES
SACRAL AGENESIS WITH VERTEBRAL ANOMALIES 		0.700 GermlineCausalMutation disease ORPHANET Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal. 24253444 2014
CUI: C3810343
Disease: SACRAL AGENESIS WITH VERTEBRAL ANOMALIES
SACRAL AGENESIS WITH VERTEBRAL ANOMALIES 		0.700 CausalMutation disease CLINVAR
CUI: C0008487
Disease: Chordoma
Chordoma 		0.620 AlteredExpression disease BEFREE These systematic approaches reveal that the developmental transcription factor T (brachyury; TBXT) is the top selectively essential gene in chordoma, and that transcriptional cyclin-dependent kinase (CDK) inhibitors targeting CDK7/12/13 and CDK9 potently suppress chordoma cell proliferation. 30664779 2019
CUI: C0008487
Disease: Chordoma
Chordoma 		0.620 Biomarker disease CTD_human A common single-nucleotide variant in T is strongly associated with chordoma. 23064415 2012
CUI: C0008487
Disease: Chordoma
Chordoma 		0.620 SusceptibilityMutation disease ORPHANET A common single-nucleotide variant in T is strongly associated with chordoma. 23064415 2012
CUI: C0008487
Disease: Chordoma
Chordoma 		0.620 Biomarker disease GENOMICS_ENGLAND A common single-nucleotide variant in T is strongly associated with chordoma. 23064415 2012
CUI: C0008487
Disease: Chordoma
Chordoma 		0.620 Biomarker disease GENOMICS_ENGLAND T (brachyury) gene duplication confers major susceptibility to familial chordoma. 19801981 2009
CUI: C0008487
Disease: Chordoma
Chordoma 		0.620 SusceptibilityMutation disease ORPHANET T (brachyury) gene duplication confers major susceptibility to familial chordoma. 19801981 2009
CUI: C0008487
Disease: Chordoma
Chordoma 		0.620 Biomarker disease CTD_human T (brachyury) gene duplication confers major susceptibility to familial chordoma. 19801981 2009
CUI: C0008487
Disease: Chordoma
Chordoma 		0.620 AlteredExpression disease LHGDN Brachyury expression in extra-axial skeletal and soft tissue chordomas: a marker that distinguishes chordoma from mixed tumor/myoepithelioma/parachordoma in soft tissue. 18301055 2008
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.400 GeneticVariation disease UNIPROT Autozygome and high throughput confirmation of disease genes candidacy. 30237576 2019
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.400 GeneticVariation disease UNIPROT The human T locus and spina bifida risk. 15449172 2004
CUI: C0344490
Disease: Sacral agenesis
Sacral agenesis 		0.400 Biomarker disease GENOMICS_ENGLAND A genetic study of the human T gene and its exclusion as a major candidate gene for sacral agenesis with anorectal atresia. 10204846 1999
CUI: C0344490
Disease: Sacral agenesis
Sacral agenesis 		0.400 Biomarker disease HPO
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.400 SusceptibilityMutation disease CLINVAR
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.310 Biomarker group LHGDN Human T and risk for neural tube defects. 11897834 2002
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.310 Biomarker group CTD_human
CUI: C4733128
Disease: familial chordoma
familial chordoma 		0.300 Biomarker disease GENOMICS_ENGLAND A common single-nucleotide variant in T is strongly associated with chordoma. 23064415 2012
CUI: C4733128
Disease: familial chordoma
familial chordoma 		0.300 Biomarker disease GENOMICS_ENGLAND T (brachyury) gene duplication confers major susceptibility to familial chordoma. 19801981 2009
CUI: C1960883
Disease: Spina bifida aperta of cervical spine
Spina bifida aperta of cervical spine 		0.300 SusceptibilityMutation disease ORPHANET The human T locus and spina bifida risk. 15449172 2004
CUI: C0266215
Disease: Anorectal atresia
Anorectal atresia 		0.300 Biomarker disease GENOMICS_ENGLAND A genetic study of the human T gene and its exclusion as a major candidate gene for sacral agenesis with anorectal atresia. 10204846 1999
CUI: C0011999
Disease: Diastematomyelia
Diastematomyelia 		0.300 Biomarker disease CTD_human
CUI: C0027806
Disease: Neurenteric Cyst
Neurenteric Cyst 		0.300 Biomarker disease CTD_human