TBX3, T-box transcription factor 3, 6926

N. diseases: 179; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		0.300 Biomarker phenotype GENOMICS_ENGLAND
CUI: C1832160
Disease: Abnormality of temperature regulation
Abnormality of temperature regulation 		0.100 Biomarker phenotype HPO
CUI: C4021792
Disease: Abnormality of the clavicle
Abnormality of the clavicle 		0.100 Biomarker disease HPO
CUI: C4021742
Disease: Abnormality of the humerus
Abnormality of the humerus 		0.100 Biomarker disease HPO
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		0.100 Biomarker disease HPO
CUI: C4025675
Disease: Abnormality of the radius
Abnormality of the radius 		0.100 Biomarker disease HPO
CUI: C4021744
Disease: Abnormality of the wrist
Abnormality of the wrist 		0.100 Biomarker disease HPO
CUI: C0426868
Disease: Absence of hand
Absence of hand 		0.100 Biomarker phenotype HPO
CUI: C1859392
Disease: Absent axillary hair
Absent axillary hair 		0.100 Biomarker phenotype HPO
CUI: C1405984
Disease: Absent radius
Absent radius 		0.100 Biomarker disease HPO
CUI: C0751956
Disease: Acute Cerebrovascular Accidents
Acute Cerebrovascular Accidents 		0.300 Biomarker disease CTD_human Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes. 29531354 2018
CUI: C0264490
Disease: Acute respiratory failure
Acute respiratory failure 		0.020 AlteredExpression disease BEFREE In addition to a role in development, TBX2 and TBX3 have been implicated in tumor development through downregulation of the alternative reading frame (ARF) tumor suppressor and an associated bypass of senescence. 15300007 2004
CUI: C0264490
Disease: Acute respiratory failure
Acute respiratory failure 		0.020 AlteredExpression disease BEFREE Results indicate that TBX3 represses expression of p14(ARF) tumor suppressor and that a HDAC inhibitor is able to reverse the TBX3 repressive function in a dosage-dependent manner. 18245468 2008
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.100 GeneticVariation disease GWASCAT Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. 23266556 2013
CUI: C0278595
Disease: Adult Fibrosarcoma
Adult Fibrosarcoma 		0.010 Biomarker disease BEFREE Importantly, we demonstrate that COL1A2 mediates the pro- and anti-migratory effects of TBX3 in chondrosarcoma and fibrosarcoma cells respectively. 31202624 2019
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		0.020 Biomarker disease BEFREE Results also indicated that AR cells increased abundantly in Tbx3, a downstream target of Wnt/β-catenin that it is implicated in liver cancer. 24317053 2013
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		0.020 Biomarker disease BEFREE Tbx3 is a downstream target of the Wnt/beta-catenin pathway and a critical mediator of beta-catenin survival functions in liver cancer. 17283120 2007
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma 		0.010 AlteredExpression disease BEFREE We found that TBX3 promotes differentiation only in the presence of early growth response factor 1 (EGR1), which is differentially expressed in RMS and is also a target of the PRC2 complex. 30979887 2019
CUI: C4551936
Disease: Anal Stenosis, CTCAE
Anal Stenosis, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C1859775
Disease: Anterior pituitary hypoplasia
Anterior pituitary hypoplasia 		0.100 Biomarker phenotype HPO
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		0.100 Biomarker disease HPO
CUI: C4024213
Disease: Aplasia of the pectoralis major muscle
Aplasia of the pectoralis major muscle 		0.100 Biomarker disease HPO
CUI: C2678397
Disease: Aplasia of the ulna
Aplasia of the ulna 		0.100 Biomarker phenotype HPO
CUI: C1865571
Disease: Aplasia/Hypoplasia of the ulna
Aplasia/Hypoplasia of the ulna 		0.100 Biomarker phenotype HPO
CUI: C0003864
Disease: Arthritis
Arthritis 		0.010 GeneticVariation disease BEFREE We showed that a small genetic fragment on mouse chromosome 5, including Tbx3 and three additional protein-coding genes, is linked to severe arthritis and high titers of anti-collagen antibodies. 30630509 2019