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
0.600 GermlineCausalMutation disease ORPHANET Splice acceptor site mutation of the transporter associated with antigen processing-1 gene in human bare lymphocyte syndrome. 10074494 1999
CUI: C1858266
Disease: Bare Lymphocyte Syndrome, Type I
Bare Lymphocyte Syndrome, Type I
0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C1858266
Disease: Bare Lymphocyte Syndrome, Type I
Bare Lymphocyte Syndrome, Type I
0.600 Biomarker disease CTD_human
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.310 Biomarker disease CTD_human The long tail of oncogenic drivers in prostate cancer. 29610475 2018
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.310 AlteredExpression disease BEFREE Moreover, the PSF1 expression correlated significantly with overall survival (hazard ratio (HR) 5.5; 95% confidence interval (CI) 2.17-15.8; P=0.003) and progression-free survival in 99 consecutive patients with prostate cancer. 25403418 2015
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: 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: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
0.300 Biomarker group CTD_human The long tail of oncogenic drivers in prostate cancer. 29610475 2018
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia
0.300 Biomarker disease CTD_human Cardioplegia prevents ischemia-induced transcriptional alterations of cytoprotective genes in rat hearts: a DNA microarray study. 16214533 2005
Diabetes Mellitus, Insulin-Dependent
0.200 GeneticVariation disease BEFREE TAP1 I333V gene polymorphism was significantly associated with increased T1DM risk. 24655325 2014
Diabetes Mellitus, Insulin-Dependent
0.200 GeneticVariation disease GWASDB A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. 17632545 2007
Diabetes Mellitus, Insulin-Dependent
0.200 GeneticVariation disease BEFREE In this study, we have investigated the frequencies of TAP1 and TAP2 alleles in a group of 226 persons, living in La Reunion Island, consisting of 70 patients with insulin-dependent diabetes mellitus (IDDM) and most of their first degree relatives (i.e., 156 parents and full sibling subjects) and previously HLA DQB1, DQA1, and DRB1 genotyped. 15336779 2004
Diabetes Mellitus, Insulin-Dependent
0.200 GeneticVariation disease BEFREE In order to determine the ethnic origin of the transporter associated with antigen processing 2 (TAP2) G allele, initially discovered by us in a group of type 1 diabetes (insulin-dependent diabetes mellitus) patients living on Reunion Island, HLA TAP2 typing was performed using the polymerase chain reaction-amplification refractory mutation system (PCR-ARMS) method in type 1 diabetes patients and unrelated healthy controls of three different ethnic groups (Caucasians, Indians and black Africans from Senegal and Mauritius). 12786999 2003
Diabetes Mellitus, Insulin-Dependent
0.200 GeneticVariation disease BEFREE The TAP1 and TAP2 transporters, which mediate the translocation of antigenic peptides into the endoplasmic reticulum and whose genes are located in the HLA class II region, are potential candidates for conferrring predisposition to type I diabetes. 11916171 2002
Diabetes Mellitus, Insulin-Dependent
0.200 GeneticVariation disease BEFREE However, TNFa*12 appeared to provide additional risks to IDDM besides the DRB1*0301 haplotype, whereas TNFa*11 and TAP1*4 conferred an independent protective effect against IDDM. 10527399 1999
Diabetes Mellitus, Insulin-Dependent
0.200 GeneticVariation disease BEFREE We found that although no single TAP1 polymorphism was associated with IDDM, a genotypic combination of Ile/Val at codon 333 with Asp/Asp at codon 637 was found more frequently in subjects with IDDM (9.4%) compared to controls (1.2%; p = 0.025). 9129974 1997
Diabetes Mellitus, Insulin-Dependent
0.200 GeneticVariation disease BEFREE To investigate the frequency of the transporter associated with antigen processing (TAP) and large multifunctional protease (LMP) alleles and their role in the susceptibility to type 1 diabetes, in comparison with the well-known HLA-DQ alleles susceptibility, in Senegalese subjects. 9250458 1997
Diabetes Mellitus, Insulin-Dependent
0.200 Biomarker disease BEFREE TAP1*02011 (16% vs. 4% in controls, P = 0.001, RR = 5.0) and TAP2*0101 (96% vs. 69% in controls, P < 0.0001, RR = 10.6) showed a positive association with IDDM. 9226129 1997
Diabetes Mellitus, Insulin-Dependent
0.200 GeneticVariation disease BEFREE Sequencing of TAP1 fragments encompassing exon 7 gave rise to a DGGE band pattern exclusively observed in an IDDM patient and sequencing revealed a previously unidentified polymorphisms at codon 518 (GTC-->ATC, Val-->Ile). 9458110 1997
Diabetes Mellitus, Insulin-Dependent
0.200 GeneticVariation disease BEFREE Likewise, haplotype DRB1*04 is characterized in 1b-IDDM patients by a lower frequency of alleles TAP1-C (4.0%) and TAP2-B (8.0%) than in 1a-IDDM patients (22.2% and 25.9%, respectively). 8988536 1996
Diabetes Mellitus, Insulin-Dependent
0.200 Biomarker disease BEFREE Because the recently discovered transporter associated with antigen processing (TAP) and large multifunctional protease (LMP) genes are encoded in the HLA class II region and are implicated in the processing of antigenic proteins for presentation by HLA class I molecules, they are additional candidates for a role in IDDM pathogenesis. 7903260 1994
Diabetes Mellitus, Insulin-Dependent
0.200 Biomarker disease BEFREE Insulin-dependent diabetes mellitus and the major histocompatibility complex peptide transporters TAP1 and TAP2: no association in a population with a high disease incidence. 7871524 1994
Diabetes Mellitus, Insulin-Dependent
0.200 Biomarker disease BEFREE In order to investigate whether TAP (Transporter associated with Antigen Processing) and LMP (Low Molecular Weight Polypeptide) genes, which are located in the class II HLA region, are HLA-linked diabetogenic genes, the association of TAP1, TAP2 and LMP2 genes with type 1 diabetes was analyzed in the Japanese population. 7911550 1994
Diabetes Mellitus, Insulin-Dependent
0.200 Biomarker disease BEFREE Lack of association of the transporter associated with antigen processing with Japanese insulin-dependent diabetes mellitus. 8052140 1994
Diabetes Mellitus, Insulin-Dependent
0.200 GeneticVariation disease BEFREE These data provide new limits for IDDM susceptibility to the 190-kb interval between TAP1 and HLA-DQB1. 8248212 1993