TBX2, T-box transcription factor 2, 6909

N. diseases: 152; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
0.400 GeneticVariation disease UNIPROT Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder. 29726930 2018
VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
0.400 CausalMutation disease CLINVAR
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.330 AlteredExpression disease BEFREE To elucidate the underlying cellular mechanism of the TBX2-mediated repression of ADAM10 gene expression, we performed overexpression, RNAi-mediated knockdown and pharmacological inhibition studies in the human neuroblastoma cell line SH-SY5Y. 30599067 2019
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.330 Biomarker disease BEFREE We then used genome-wide chromatin-immunoprecipitation coupled to high-throughput sequencing analysis to demonstrate that a small number of essential transcription factors-MYCN, HAND2, ISL1, PHOX2B, GATA3, and TBX2-are members of the transcriptional core regulatory circuitry (CRC) that maintains cell state in MYCN-amplified neuroblastoma. 30127528 2018
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.330 Biomarker disease CTD_human We then used genome-wide chromatin-immunoprecipitation coupled to high-throughput sequencing analysis to demonstrate that a small number of essential transcription factors-MYCN, HAND2, ISL1, PHOX2B, GATA3, and TBX2-are members of the transcriptional core regulatory circuitry (CRC) that maintains cell state in MYCN-amplified neuroblastoma. 30127528 2018
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.330 AlteredExpression disease BEFREE In conclusion, we provide insight into the role of the TBX2 CRC gene in transcriptional dependency of neuroblastoma cells warranting clinical trials using BET and CDK7 inhibitors. 30451831 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.110 GeneticVariation group GWASCAT Interethnic analyses of blood pressure loci in populations of East Asian and European descent. 30487518 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.110 GeneticVariation group GWASCAT Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension. 27618447 2016
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.110 Biomarker group BEFREE The role of TBX2 and TBX4 in pulmonary hypertension warrants investigation. 21271665 2011
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
0.100 GeneticVariation phenotype GWASCAT Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies. 30604766 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE TBX2 overexpression correlated with tumor invasion, advanced tumor node metastasis stage and presence of lymph node metastasis. 30651856 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE In conclusion, we showed that the TBX2 subfamily genes play a critical tumor suppressor role in lung cancer pathogenesis through regulating its methylating pattern, making them putative candidates for epigenetic therapy in LUAD. 30425966 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE EGR1 interacts with TBX2 and functions as a tumor suppressor in rhabdomyosarcoma. 29719592 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE The enriched genes included MMP9, SERPINE2, CAV1, KRT14, and RASA3 in basal tumors, and PPARG, LY6E, CTSE, CDK3, and TBX2 in luminal tumors. 30089113 2018
CUI: C0201952
Disease: Chloride measurement
Chloride measurement
0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
CUI: C0202194
Disease: Potassium measurement
Potassium measurement
0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
0.100 GeneticVariation phenotype GWASCAT Interethnic analyses of blood pressure loci in populations of East Asian and European descent. 30487518 2018
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure
0.100 GeneticVariation phenotype GWASCAT Interethnic analyses of blood pressure loci in populations of East Asian and European descent. 30487518 2018
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.100 GeneticVariation phenotype GWASCAT Interethnic analyses of blood pressure loci in populations of East Asian and European descent. 30487518 2018
Fibroblast Growth Factor 23 Measurement
0.100 GeneticVariation phenotype GWASCAT Genetic Variants Associated with Circulating Fibroblast Growth Factor 23. 30217807 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE At the molecular level, we discovered that expressions of several tumor suppressor genes, including <i>p21, p27</i>, <i>phosphatase with tensin homology (PTEN)</i> and <i>E-Cadherin</i>, were increased dramatically after TBX2 knockdown in above NPC cells. 28881763 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE Blocking endogenous TBX2 expression in PC3 and ARCaP<sub>M</sub> prostate cancer cell models using a dominant-negative construct resulted in decreased tumor cell proliferation, colony formation, and invasion <i>in vitro</i> Blocking endogenous TBX2 in human prostate cancer mouse xenografts decreased invasion and abrogation of bone and soft tissue metastasis. 28108510 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE The results indicated that the expression rates of TBX2 were significantly increased in the cancerous tissues, compared with the healthy tumor adjacent tissue, and TBX2 increased staining was associated with the clinical stage and pathological grade. 28849151 2017
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
0.100 GeneticVariation phenotype GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878 2017
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.100 GeneticVariation phenotype GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878 2017