TBX1, T-box transcription factor 1, 6899

N. diseases: 417; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1861869
Disease: Underdeveloped supraorbital ridges
Underdeveloped supraorbital ridges 		0.100 Biomarker phenotype HPO
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae 		0.100 Biomarker phenotype HPO
CUI: C1866994
Disease: Ulnar-mammary syndrome
Ulnar-mammary syndrome 		0.020 Biomarker disease BEFREE Mutations in human T-box genes TBX3, TBX5, and TBX1 cause severe genetic disorders known as Ulnar-Mammary syndrome (UMS), Holt-Oram syndrome (HOS), and DiGeorge syndrome, respectively. 12005433 2002
CUI: C1866994
Disease: Ulnar-mammary syndrome
Ulnar-mammary syndrome 		0.020 AlteredExpression disease BEFREE Expression of Tbx1 and Tbx3, the DiGeorge/velo-cardio-facial (DGS) and Ulnar-mammary syndrome (UMS) disease genes, was expanded in miR-17-92 mutant craniofacial structures. 24068957 2013
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.030 Biomarker phenotype BEFREE Both intra-tumor macrophage and T-box transcription factor Brachyury (T) have been proved to play important roles in tumor progression and metastasis. 25744730 2015
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.030 Biomarker phenotype BEFREE Our results also indicate the essential role of interleukin 8 (IL-8) signaling for the acquisition and/or maintenance of the mesenchymal and invasive features of Brachyury-overexpressing tumor cells and show that IL-8 secreted by tumor cells undergoing EMT could potentiate tumor progression by inducing adjacent epithelial tumor cells into EMT. 21653678 2011
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.030 Biomarker phenotype BEFREE The selective expression of Brachyury in tumor cells and its role in EMT and cancer progression suggest that Brachyury may be an attractive target for antitumor therapies. 20071775 2010
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.060 Biomarker phenotype BEFREE Brachyury has been characterized as a driver of epithelial-mesenchymal transition process which is regarded as an important mechanism of cancer cell invasion and metastatic progression. 28621227 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.060 Biomarker phenotype BEFREE Multivariate analysis of disease-free survival (DFS) revealed brachyury expression, HER2 and lymphovascular invasion as independent prognostic factors [brachyury negative vs. positive hazard ratio (HR), 3.0; P=0.024; HER2 negative vs. positive HR, 4.9; P=0.003; lymphovascular invasion absent vs. present HR, 3.5; P=0.020]. 29399164 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.060 Biomarker phenotype BEFREE The migratory and invasive capacities of Brachyury-SMMC7721 and Brachyury-HepG2 transfected cells were evaluated using in vitro scratch wound healing and Matrigel invasion assays, respectively. 25499255 2014
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.060 Biomarker phenotype BEFREE Brachyury knockdown significantly inhibited cell migration and invasion and suppressed chemoresistance. 24504414 2014
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.060 AlteredExpression phenotype BEFREE The present study aimed to assess the influence of Brachyury on the expression of 23 MMP members and to further explore the mechanisms involved in the promotion of NSCLC cell invasion by Brachyury and MMPs in the H460 and H1299 stable cell lines. 27176766 2016
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.060 Biomarker phenotype BEFREE Conversely, inhibition of Brachyury resulted in downregulation of mesenchymal markers and loss of cell migration and invasion and diminished the ability of human tumor cells to form lung metastases in a xenograft model. 20071775 2010
CUI: C1969372
Disease: Tubulointerstitial fibrosis
Tubulointerstitial fibrosis 		0.010 AlteredExpression phenotype BEFREE The T-box transcription factor Brachyury promotes renal interstitial fibrosis by repressing E-cadherin expression. 25433496 2014
CUI: C0041207
Disease: Truncus Arteriosus, Persistent
Truncus Arteriosus, Persistent 		0.140 Biomarker disease BEFREE Crossing IP<sub>3</sub>R-LacZ mice with mice hypomorphic for Tbx1 alleles revealed that PTA of Tbx1 mutants may result from agenesis or hypoplasia of the pulmonary trunk; thus, the left and right central to peripheral PAs connect directly to the dorsal side of the truncus arteriosus in these mutants. 31758944 2020
CUI: C0041207
Disease: Truncus Arteriosus, Persistent
Truncus Arteriosus, Persistent 		0.140 GeneticVariation disease BEFREE When both alleles of Tbx1 and one allele of β-catenin were inactivated in the Mef2c-AHF-Cre domain, 61% of them (n = 34) showed partial or complete rescue of the PTA defect. 28346476 2017
CUI: C0041207
Disease: Truncus Arteriosus, Persistent
Truncus Arteriosus, Persistent 		0.140 Biomarker disease BEFREE DiGeorge syndrome patients are haploinsufficient for Tbx1 and present a spectrum of conotruncal anomalies including tetralogy of Fallot, pulmonary atresia, and common arterial trunk. 21591244 2011
CUI: C0041207
Disease: Truncus Arteriosus, Persistent
Truncus Arteriosus, Persistent 		0.140 GeneticVariation disease BEFREE Here we found that all resulting conditional GOF embryos had a persistent truncus arteriosus (PTA), similar to what was previously reported for conditional Tbx1 LOF mutant embryos. 29509905 2018
CUI: C0041207
Disease: Truncus Arteriosus, Persistent
Truncus Arteriosus, Persistent 		0.140 Biomarker disease HPO
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.030 AlteredExpression disease BEFREE Therefore, Brachyury expression in primary tumor independently is a potential predictor of poor prognosis, particularly in TNBC, where it appears to serve a crucial function in recurrence and mortality. 29399164 2018
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.030 AlteredExpression disease BEFREE At the protein level, variable levels of brachyury expression were detected both in primary and metastatic TNBC lesions. 27580659 2016
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.030 Biomarker disease BEFREE SMC1 promotes epithelial-mesenchymal transition in triple-negative breast cancer through upregulating Brachyury. 26781859 2016
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		0.030 AlteredExpression disease BEFREE Therefore, Brachyury expression in primary tumor independently is a potential predictor of poor prognosis, particularly in TNBC, where it appears to serve a crucial function in recurrence and mortality. 29399164 2018
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		0.030 Biomarker disease BEFREE SMC1 promotes epithelial-mesenchymal transition in triple-negative breast cancer through upregulating Brachyury. 26781859 2016
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		0.030 AlteredExpression disease BEFREE At the protein level, variable levels of brachyury expression were detected both in primary and metastatic TNBC lesions. 27580659 2016