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 CTD_human
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: C0013990
Disease: Pathological accumulation of air in tissues
Pathological accumulation of air in tissues 		0.100 Biomarker phenotype HPO
CUI: C0027430
Disease: Nasal Polyps
Nasal Polyps 		0.100 Biomarker disease HPO
CUI: C0037299
Disease: Skin Ulcer
Skin Ulcer 		0.100 Biomarker phenotype 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: C0349411
Disease: Pangastrointestinal system dysfunction
Pangastrointestinal system dysfunction 		0.010 Biomarker disease BEFREE (iii) Gastrointestinal failure and TPN dependency. 26081292 2015
CUI: C1334647
Disease: Maxillary Sinus Squamous Cell Carcinoma
Maxillary Sinus Squamous Cell Carcinoma 		0.010 AlteredExpression disease BEFREE Tapasin expression appears to be associated with HLA class I antigen expression in primary maxillary sinus SCC lesions. 14519625 2003
CUI: C1384600
Disease: Systemic onset juvenile chronic arthritis
Systemic onset juvenile chronic arthritis 		0.010 GeneticVariation disease BEFREE Tapasin gene polymorphism in systemic onset juvenile rheumatoid arthritis: a family-based case-control study. 15743475 2005
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: C0017636
Disease: Glioblastoma
Glioblastoma 		0.020 Biomarker disease BEFREE Tapasin and human leukocyte antigen class I dysregulation correlates with survival in glioblastoma multiforme. 25175688 2014
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: C0027651
Disease: Neoplasms
Neoplasms 		0.100 AlteredExpression group BEFREE A heterogeneous expression pattern of MHC class I antigens, TAP peptide transporter, proteasome subunits, proteasome activator PA28 and the chaperones calnexin, calreticulin as well as tapasin was displayed by these tumor cell lines. 10933198 2000
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.020 AlteredExpression phenotype BEFREE A reduction of tapasin expression strongly correlated with venous invasion (AUC 0.682, OR 2.7, p = 0.002; 95% CI 1.7-5.0), lymphatic invasion (AUC 0.620, OR 2.0, p = 0.005; 95 % CI 1.3-3.3), distant metastasis (AUC 0.727, OR 2.9, p = 0.004; 95% CI 1.4-5.9) and an infiltrative tumor border configuration (AUC 0.621, OR 2.2, p = 0.017; 95% CI 1.2-4.4). 26310568 2015
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.020 AlteredExpression phenotype BEFREE A reduction of tapasin expression strongly correlated with venous invasion (AUC 0.682, OR 2.7, p = 0.002; 95% CI 1.7-5.0), lymphatic invasion (AUC 0.620, OR 2.0, p = 0.005; 95 % CI 1.3-3.3), distant metastasis (AUC 0.727, OR 2.9, p = 0.004; 95% CI 1.4-5.9) and an infiltrative tumor border configuration (AUC 0.621, OR 2.2, p = 0.017; 95% CI 1.2-4.4). 26310568 2015
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: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		0.010 Biomarker disease LHGDN 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: C0267842
Disease: Acute cholecystitis without calculus
Acute cholecystitis without calculus 		0.010 GeneticVariation disease BEFREE AAC: Acute acalculous cholecystitis; T-ALL: T-cell acute lymphoblastic leukemia; TPN: Total parenteral nutrition. 28085529 2017
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		0.010 Biomarker disease BEFREE AAC: Acute acalculous cholecystitis; T-ALL: T-cell acute lymphoblastic leukemia; TPN: Total parenteral nutrition. 28085529 2017
CUI: C0008370
Disease: Cholestasis
Cholestasis 		0.010 Biomarker disease BEFREE Adjusting for clinical and demographic characteristics, patients treated at high-volume hospitals had similar rates of TPN cholestasis and similar mortality rates, but a higher chance for a prolonged length of stay compared to those treated at low-volume hospitals. 28947327 2017