TAPBP, TAP binding protein, 6892

N. diseases: 86; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1858266
Disease: Bare Lymphocyte Syndrome, Type I
Bare Lymphocyte Syndrome, Type I
0.610 Biomarker disease BEFREE These results suggest that tapasin deficiency is another cause of type I BLS. 12149238 2002
CUI: C1858266
Disease: Bare Lymphocyte Syndrome, Type I
Bare Lymphocyte Syndrome, Type I
0.610 GermlineCausalMutation disease ORPHANET A subject with a novel type I bare lymphocyte syndrome has tapasin deficiency due to deletion of 4 exons by Alu-mediated recombination. 12149238 2002
CUI: C1858266
Disease: Bare Lymphocyte Syndrome, Type I
Bare Lymphocyte Syndrome, Type I
0.610 Biomarker disease GENOMICS_ENGLAND A subject with a novel type I bare lymphocyte syndrome has tapasin deficiency due to deletion of 4 exons by Alu-mediated recombination. 12149238 2002
CUI: C1858266
Disease: Bare Lymphocyte Syndrome, Type I
Bare Lymphocyte Syndrome, Type I
0.610 Biomarker disease CTD_human
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.310 Biomarker disease PSYGENET We found significant associations between schizophrenia and TAP1 allele frequencies (P=9.95x10(-3), chi(2)=12.36) as well as TAPASIN allele frequencies (P=2.8x10(-2), chi(2)=5.3). 19217216 2009
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.310 GeneticVariation disease BEFREE We found significant associations between schizophrenia and TAP1 allele frequencies (P=9.95x10(-3), chi(2)=12.36) as well as TAPASIN allele frequencies (P=2.8x10(-2), chi(2)=5.3). 19217216 2009
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.100 GeneticVariation disease GWASDB A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis. 21156761 2011
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis
0.100 Biomarker disease HPO
CUI: C0006271
Disease: Bronchiolitis
Bronchiolitis
0.100 Biomarker disease HPO
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis
0.100 Biomarker disease HPO
CUI: C0027430
Disease: Nasal Polyps
Nasal Polyps
0.100 Biomarker disease HPO
CUI: C0149516
Disease: Chronic sinusitis
Chronic sinusitis
0.100 Biomarker disease HPO
CUI: C0271441
Disease: Chronic otitis media
Chronic otitis media
0.100 Biomarker disease HPO
CUI: C0741796
Disease: Recurrent bronchitis
Recurrent bronchitis
0.100 Biomarker disease HPO
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
0.030 GeneticVariation disease BEFREE Tapasin alleles contribute to the outcome of HCV infection by synergizing with polymorphisms at HLA-B in a population-specific manner. 23532923 2013
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
0.030 GeneticVariation disease BEFREE Our study implicated that TAP2, HLA-DOA, HLA-DOB, and tapasin loci were novel candidate regions for susceptibility to HCV infection and viral clearance in the Chinese population. 25874709 2015
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
0.030 Biomarker disease BEFREE The current study determined the genotypes of 34 tagging-SNPs (single nucleotide polymorphisms) from 9 candidate genes (HLA-DMA, HLA-DMB, HLA-DOA, HLA-DOB, TAP1, TAP2, LMP2, LMP7, and tapasin) in a Chinese population of paid blood donors with high risk of HCV infection. 25528575 2014
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.020 AlteredExpression disease BEFREE In the present study, we assessed tapasin expression in 85 primary tumor lesions of non-small cell lung cancer (NSCLC) patients, demonstrating that tapasin expression positively correlated with patient survival. 28344889 2017
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.020 AlteredExpression disease BEFREE The present study examines the expression of HLA, tapasin, transporter associated with antigen processing 1 (TAP1), and beta2 microglobulin in human small cell lung carcinoma and non-small cell lung carcinoma. 16140964 2005
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.020 Biomarker disease BEFREE Consistent with published functional data showing that tapasin promotes antigen presentation, as well as tumor immune recognition and destruction by CD8(+) CTLs, a reduction in tapasin expression is associated with tumor progression in CRC. 26310568 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.020 GeneticVariation disease BEFREE Finally, we determined that rs3106189, localized to the 5' UTR of antigen presenting tapasin binding protein (TAPBP), and rs1052918, localized to the 3' UTR of transcription factor 3 (TCF3), were associated with overall survival of CRC patients. 23940558 2013
CUI: C0011847
Disease: Diabetes
Diabetes
0.020 Biomarker disease BEFREE To compare the effectiveness (metabolic control) and safety of two insulin regimens in patients with diabetes receiving TPN. 30930133 2020
CUI: C0011847
Disease: Diabetes
Diabetes
0.020 GeneticVariation disease BEFREE The following characteristics were significantly associated with severe CKD: female gender (HR 1.34), older age (HR 1.38/10 year increment), catheter-related sepsis (HR 1.58), steroid maintenance immunosuppression (HR 1.50), graft failure (HR 1.76), ACR (HR 1.64), prolonged requirement for IV fluids (HR 2.12) or TPN (HR 1.94), and diabetes (HR 1.54). 28241392 2017
Diabetes Mellitus, Non-Insulin-Dependent
0.020 Biomarker disease BEFREE Prospective, open-label, multicenter, clinical trial on adult inpatients with type 2 diabetes on a non-critical setting with indication for TPN. 30930133 2020
Diabetes Mellitus, Non-Insulin-Dependent
0.020 AlteredExpression disease BEFREE BG = blood glucose; CG = conventional glycemic control; ENT = enteral nutrition therapy; GIP = glucose-dependent insulinotropic polypeptide; GLP-1 = glucagon-like peptide 1; IG = intensive glycemic control; IV = intravenous; NPH = neutral protamine Hagedorn; PNT = parenteral nutrition therapy; SQ = subcutaneous; T2DM = type 2 diabetes mellitus; TDD = total daily dose; TPN = total parenteral nutrition. 30035626 2018