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: 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: C0027651
Disease: Neoplasms
Neoplasms 		0.100 AlteredExpression group BEFREE Its restoration by cytokines further suggests that impaired tapasin expression in tumors is rather due to dysregulation than to structural alterations. 11169257 2001
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.010 AlteredExpression disease BEFREE Lack of HLA-class I antigens in human neuroblastoma cells: analysis of its relationship to TAP and tapasin expression. 11260505 2001
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 AlteredExpression disease BEFREE Lack of HLA-class I antigens in human neuroblastoma cells: analysis of its relationship to TAP and tapasin expression. 11260505 2001
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.010 AlteredExpression disease BEFREE Lack of HLA-class I antigens in human neuroblastoma cells: analysis of its relationship to TAP and tapasin expression. 11260505 2001
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: 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: C0025202
Disease: melanoma
melanoma 		0.020 AlteredExpression disease LHGDN The downregulation of tapasin in advanced stages of human melanoma may reflect the accumulation of alterations in the antigen-presenting/processing machinery associated with neoplastic progression. 12682852 2003
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.010 Biomarker disease BEFREE Immunohistochemical staining of 51 formalin-fixed RCC lesions and autologous normal renal epithelium detected transporter associated with antigen processing (TAP)1 and tapasin deficiencies in 63 and 80% of the tumor lesions. 12738726 2003
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 Biomarker disease BEFREE Immunohistochemical staining of 51 formalin-fixed RCC lesions and autologous normal renal epithelium detected transporter associated with antigen processing (TAP)1 and tapasin deficiencies in 63 and 80% of the tumor lesions. 12738726 2003
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 AlteredExpression group BEFREE Both tapasin and HLA class I antigen expression were significantly correlated with the number of infiltrating CD3(+) T cells into tumor lesions (P < 0.01); furthermore, tapasin expression was significantly correlated with tumor differentiation (P = 0.024). 14519625 2003
CUI: C0024958
Disease: Maxillary Sinus Neoplasms
Maxillary Sinus Neoplasms 		0.010 AlteredExpression group LHGDN Association of tapasin and HLA class I antigen down-regulation in primary maxillary sinus squamous cell carcinoma lesions with reduced survival of patients. 14519625 2003
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