TRAC, T cell receptor alpha constant, 28755

N. diseases: 28; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY
0.700 GermlineCausalMutation disease ORPHANET Mutation in the TCRα subunit constant gene (TRAC) leads to a human immunodeficiency disorder characterized by a lack of TCRαβ+ T cells. 21206088 2011
T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY
0.700 Biomarker disease GENOMICS_ENGLAND Inherited polymorphism of the human T-cell antigen receptor detected by a monoclonal antibody. 3464003 1986
T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY
0.700 Biomarker disease CTD_human
T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY
0.700 CausalMutation disease CLINVAR
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
0.300 Biomarker disease GENOMICS_ENGLAND Inherited polymorphism of the human T-cell antigen receptor detected by a monoclonal antibody. 3464003 1986
CUI: C0004368
Disease: Autoimmune state
Autoimmune state
0.100 Biomarker phenotype HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
0.100 Biomarker disease HPO
CUI: C0239998
Disease: Recurrent infections
Recurrent infections
0.100 Biomarker phenotype HPO
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy
0.100 Biomarker phenotype HPO
CUI: C0745091
Disease: Hypereosinophilia
Hypereosinophilia
0.100 Biomarker disease HPO
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 GeneticVariation group BEFREE Targeting a CAR to the TRAC locus with CRISPR/Cas9 enhances tumour rejection. 28225754 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 Biomarker group BEFREE Simultaneous detection of TCRA/D or TCRB breaks was achieved in a multicolor approach, which was further combined with detection of the T-cell-specific CD3 antigen in a multicolor FICTION (Fluorescence Immunophenotyping and Interphase Cytogenetics as a Tool for the Investigation of Neoplasm) assay. 12682631 2003
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 GeneticVariation group BEFREE This translocation had rearranged the TCRA/D locus on chromosome band 14q11 and the locus encoding the tumor suppressor gene P16INK4/MTS1 (P16) on band 9p21 (D. Duro et al., Oncogene, 11: 21-29, 1995). 8631023 1996
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.020 Biomarker disease BEFREE These linkage studies provide no significant evidence of a major germline-encoded TCRA or TCRB component of susceptibility to RA. 9336413 1997
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.020 Biomarker disease BEFREE These findings show evidence that TCRA is an RA susceptibility locus. 9259417 1997
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.010 AlteredExpression disease BEFREE Here we show that directing a CD19-specific CAR to the T-cell receptor α constant (TRAC) locus not only results in uniform CAR expression in human peripheral blood T cells, but also enhances T-cell potency, with edited cells vastly outperforming conventionally generated CAR T cells in a mouse model of acute lymphoblastic leukaemia. 28225754 2017
CUI: C0406810
Disease: Carney Complex
Carney Complex
0.010 GeneticVariation disease BEFREE We further demonstrate that targeting the CAR to the TRAC locus averts tonic CAR signalling and establishes effective internalization and re-expression of the CAR following single or repeated exposure to antigen, delaying effector T-cell differentiation and exhaustion. 28225754 2017
CUI: C2363142
Disease: T-Cell Prolymphocytic Leukemia
T-Cell Prolymphocytic Leukemia
0.010 GeneticVariation disease BEFREE Two distinct genetic subgroups of T-PLL were identified: A large subset (86% of patients) showed abnormalities involving the TCRA/D locus activating the proto-oncogenes TCL1 or MTCP1, while the second group was characterized by a high frequency of TP53 mutations (4/7 cases). 26493028 2016
CUI: C0023492
Disease: Leukemia, T-Cell
Leukemia, T-Cell
0.010 GeneticVariation disease BEFREE The 14q32.13 breakpoints were mapped by fluorescence in situ hybridization (FISH) in the region harboring the TCL1A/TCL1B/TCL6 genes, known to be affected by TCRA/D-mediated t(14;14)(q11;q32)/inv(14)(q11q32) occurring in T-cell leukemia/lymphoma. 22553924 2012
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.010 GeneticVariation disease BEFREE Chinese narcolepsy was strongly and dose dependently associated with TCRA (rs1154155C) and P2RY11 (rs2305795A) but not CPT1B/CHKB (rs5770917C) polymorphisms. 22177342 2012
CUI: C0036920
Disease: Sezary Syndrome
Sezary Syndrome
0.010 Biomarker disease BEFREE The lack of clear stereotypic TCRA and TCRB CDR3 amino acid motifs would argue against involvement of a single common antigen in the pathogenesis of SS. 21410672 2011
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.010 Biomarker disease BEFREE TRAC and qRT-PCR analyses validated the microarray results and therefore the role of these genes as potential biomarkers for gastric cancer. 20187983 2010
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
0.010 AlteredExpression group BEFREE To highlight genes of potential biological and clinical relevance in gastric cancer, we carried out a systematic array-based survey of gene expression and copy number levels in primary gastric tumors and gastric cancer cell lines and validated the results using an affinity capture based transcript analysis (TRAC assay) and real-time qRT-PCR. 20187983 2010
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.010 Biomarker disease BEFREE TRAC and qRT-PCR analyses validated the microarray results and therefore the role of these genes as potential biomarkers for gastric cancer. 20187983 2010
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.010 GeneticVariation disease BEFREE The T cell receptor alpha constant gene (TRAC) encodes the constant region of the alpha chain for the T cell receptor, and the association of its gene variants with IgA nephropathy remains controversial. 19470682 2009