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
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: C0740441
Disease: Acute diarrhea
Acute diarrhea
0.010 Biomarker disease BEFREE The antidiarrheal effect of α-TPN in the treatment of acute diarrhea and enteropooling induced by castor oil or PGE<sub>2</sub> in Swiss mice pretreated orally with saline (NaCl 0.9%), Loperamide (5 mg/kg) and α-TPN (6.25, 12.5, 25 and 50 mg/kg) was analyzed. 30540974 2019
CUI: C0856825
Disease: Acute GVH disease
Acute GVH disease
0.010 Biomarker disease BEFREE Hepatobiliary dysfunction was less frequent (12%) but carried a poor prognosis. aGVHD grade II-IV (OR 2.7, p = 0.02) and long-term TPN (OR 3.25, p = 0.01) increased the risk. 26518451 2016
CUI: C0332853
Disease: Anastomosis
Anastomosis
0.010 Biomarker disease BEFREE Patients who underwent duodenocolonic anastomosis received smaller TPN volume (33.8 vs 49.8 mL/kg). 28755968 2017
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.020 Biomarker disease BEFREE In this study, we conducted classical molecular dynamics simulations of two HLA alleles, the ankylosing spondylitis (AS) associated/tapasin-dependent HLA-B*27:05 and nondisease-associated/tapasin-independent HLA-B*27:09, both in peptide-free forms as well as complex with four different peptides ligands. 28278760 2018
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.020 AlteredExpression disease BEFREE Thus, except for the differential effects of tapasin on surface expression, the tapasin, TAP, and immunoproteasome dependency of B*2704 for maturation, surface expression, and T cell recognition are similar to B*2705, indicating that basic immunological features are shared by the two major HLA-B27 allotypes associated to ankylosing spondylitis in human populations. 17082617 2006
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.010 Biomarker disease BEFREE To deliver personalized RNA-based-therapy targeting oncogenic miRNAs that form part of this common PDAC miRNA over-expression signature, we packaged antimiR oligonucleotides against one of these miRNAs in tumor-penetrating nanocomplexes (TPN) targeting cell surface proteins on PDAC tumors.<b>Results:</b> As a validation for our pre-clinical strategy, the therapeutic potential of one of our nano-drugs, TPN-21, was first shown to decrease tumor cell growth and survival in PDO avatars for individual patients, then in their PDX avatars.<b>Conclusions:</b> This general approach appears suitable for co-clinical validation of personalized RNA medicine and paves the way to prospectively identify patients with eligible miRNA profiles for personalized RNA-based therapy.<i></i>. 29330203 2018
Aspirin exacerbated respiratory disease
0.010 GeneticVariation disease BEFREE Logistic regression analysis showed that the minor allele frequencies of TAPBP rs2071888 C>G (Thr260Arg) on exon 4 (P>0.05), which was in absolute linkage disequilibrium with rs1059288 T>C on 3'UTR, were significantly higher in the AERD group than in the aspirin-tolerant asthma group, and the P values remained significant after multiple comparisons (Pcorr=0.006, odds ratio: 1.37, 95% confidence interval: 1.11-1.69, additive model; Pcorr=0.009, odds ratio: 1.52, 95% confidence interval: 1.14-2.03, dominant model). 23736108 2013
CUI: C0004096
Disease: Asthma
Asthma
0.010 GeneticVariation disease BEFREE Logistic regression analysis showed that the minor allele frequencies of TAPBP rs2071888 C>G (Thr260Arg) on exon 4 (P>0.05), which was in absolute linkage disequilibrium with rs1059288 T>C on 3'UTR, were significantly higher in the AERD group than in the aspirin-tolerant asthma group, and the P values remained significant after multiple comparisons (Pcorr=0.006, odds ratio: 1.37, 95% confidence interval: 1.11-1.69, additive model; Pcorr=0.009, odds ratio: 1.52, 95% confidence interval: 1.14-2.03, dominant model). 23736108 2013
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: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.100 GeneticVariation phenotype GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
CUI: C1305855
Disease: Body mass index
Body mass index
0.100 GeneticVariation phenotype GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis
0.100 Biomarker disease HPO
CUI: C0006271
Disease: Bronchiolitis
Bronchiolitis
0.100 Biomarker disease HPO
CUI: C1857941
Disease: Brooke-Spiegler syndrome
Brooke-Spiegler syndrome
0.010 Biomarker disease BEFREE The villus height and crypt depth of the ileum in the SBS/TPN/ghrelin group were significantly higher than in the SBS/TPN group. 29966680 2018
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.010 AlteredExpression group BEFREE Metastatic human carcinomas often express low levels of the antigen-processing components Tapasin and TAP and display few functional surface MHC class I molecules. 18316574 2008
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.010 AlteredExpression disease BEFREE To test our hypothesis, a nonreplicating adenovirus vector encoding human Tpn (AdhTpn) was constructed to restore Tpn expression in vitro and in vivo in a murine lung carcinoma cell line (CMT.64) that is characterized by down-regulation of surface MHC class I due to deficiency in antigen-processing components. 18316574 2008
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: C4048328
Disease: cervical cancer
cervical cancer
0.010 Biomarker disease BEFREE Thirty-five single-nucleotide polymorphisms (SNPs) in 5 genes (LMP2, TAP1, LMP7, TAP2, and Tapasin) were investigated for association with susceptibility to HPV16-associated cervical cancer. 18248301 2008
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
0.010 Biomarker disease BEFREE Thirty-five single-nucleotide polymorphisms (SNPs) in 5 genes (LMP2, TAP1, LMP7, TAP2, and Tapasin) were investigated for association with susceptibility to HPV16-associated cervical cancer. 18248301 2008
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: C0008354
Disease: Cholera
Cholera
0.010 AlteredExpression disease BEFREE The results suggest an anti-diarrheal activity of α-TPN due to its anticholinergic action, ability to block PGE<sub>2</sub> and GM1 receptors and interaction with cholera toxin in secretory diarrhea, making it a promising candidate drug for the treatment of diarrheal diseases. 30540974 2019