CPQ, carboxypeptidase Q, 10404

N. diseases: 87; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.300 Biomarker disease CTD_human Spectrum of diverse genomic alterations define non-clear cell renal carcinoma subtypes. 25401301 2015
Conventional (Clear Cell) Renal Cell Carcinoma
0.300 Biomarker disease CTD_human Spectrum of diverse genomic alterations define non-clear cell renal carcinoma subtypes. 25401301 2015
CUI: C1266042
Disease: Chromophobe Renal Cell Carcinoma
Chromophobe Renal Cell Carcinoma
0.300 Biomarker disease CTD_human Spectrum of diverse genomic alterations define non-clear cell renal carcinoma subtypes. 25401301 2015
CUI: C1266043
Disease: Sarcomatoid Renal Cell Carcinoma
Sarcomatoid Renal Cell Carcinoma
0.300 Biomarker disease CTD_human Spectrum of diverse genomic alterations define non-clear cell renal carcinoma subtypes. 25401301 2015
Collecting Duct Carcinoma of the Kidney
0.300 Biomarker disease CTD_human Spectrum of diverse genomic alterations define non-clear cell renal carcinoma subtypes. 25401301 2015
CUI: C1306837
Disease: Papillary Renal Cell Carcinoma
Papillary Renal Cell Carcinoma
0.300 Biomarker disease CTD_human Spectrum of diverse genomic alterations define non-clear cell renal carcinoma subtypes. 25401301 2015
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental
0.300 Biomarker disease CTD_human Systems level analysis and identification of pathways and networks associated with liver fibrosis. 25380136 2014
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.100 GeneticVariation phenotype GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.090 Biomarker disease BEFREE A lot of genes including interleukin, matrix metalloproteinases (MMPs), and endoplasmic reticulum aminopeptidase were found associated with AS. 30170451 2018
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.090 Biomarker disease BEFREE In accordance with studies demonstrating that polymorphisms that increase aminopeptidase activity predispose to immune disease, the increased risk also attributed to increased expression of ERAP1 and ERAP2 supports the notion of using aminopeptidase inhibition to treat AS and other ERAP-associated conditions. 29108111 2018
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.090 GeneticVariation disease BEFREE Previous studies show that endoplasmic reticulum-associated aminopeptidase (ERAP1/ERAP2) and runt-related transcription factor 3 (RUNX3) gene polymorphisms are associated with AS (ankylosing spondylitis) in European Caucasians. 29480940 2018
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.090 GeneticVariation disease BEFREE Endoplasmic reticulum (ER) aminopeptidase 1 (ERAP1) variants contribute to the risk of ankylosing spondylitis in HLA-B27 positive individuals, implying a disease-related interaction between these gene products. 27107845 2016
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.090 Biomarker disease BEFREE Discovery of the association of aminopeptidase genes with AS, and subsequently with psoriasis, inflammatory bowel disease and other conditions, has triggered research into therapies targeting this pathway. 27641916 2016
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.090 Biomarker disease BEFREE It was found that single nucleotide polymorphisms (SNPs) of endoplasmic reticulum aminopeptidase (ERAP1 and ERAP2) genes influence the risk of ankylosing spondylitis, the most common form of SpA and the risk of psoriasis. 28083616 2016
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.090 Biomarker disease BEFREE A key aminopeptidase in class I major histocompatibility complex presentation, ERAP1 potentially contributes to the pathogenesis of AS by altering HLA-B27 peptide presentation. 24504800 2014
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.090 Biomarker disease BEFREE We also show that polymorphisms of ERAP1, which encodes an endoplasmic reticulum aminopeptidase involved in peptide trimming before HLA class I presentation, only affect ankylosing spondylitis risk in HLA-B27-positive individuals. 21743469 2011
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.090 GeneticVariation disease BEFREE Serum cytokine receptors in ankylosing spondylitis: relationship to inflammatory markers and endoplasmic reticulum aminopeptidase polymorphisms. 20595269 2010
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.060 Biomarker group BEFREE It is the only known aminopeptidase in the family and is reported to be involved in cancer and other major diseases. 30044821 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.060 Biomarker group BEFREE These properties suggested that Ec-LDP-TRAIL and Ec-LDP-TRAIL-AE may be promising candidates for targeted cancer therapy. 25122444 2015
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.060 Biomarker group BEFREE This review focuses on the function and subcellular location of five key aminopeptidases (aminopeptidase N, leucine aminopeptidase, puromycin-sensitive aminopeptidase, leukotriene A4 hydrolase and endoplasmic reticulum aminopeptidase 1/2) and their association with different diseases, in particular cancer and their current position as target for therapeutic intervention by aminopeptidase inhibitors. 24385243 2014
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.060 Biomarker group BEFREE This metallo-aminopeptidase has been identified as a potential target for cancer chemotherapy. 23428964 2013
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.060 Biomarker group BEFREE The multifunctional membrane bound serine aminopeptidase dipeptidyl peptidase (DPP)-IV has been linked to the development and progression of several malignancies, possibly both through the enzymatic and nonenzymatic mechanisms. 22306301 2012
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.060 Biomarker group BEFREE The potential efficacy of hlFVII-LDP-AE for cancer therapy was examined in vitro by 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) assays and in vivo with a BALB/c nude mouse xenograft model of the human lung cancer line NCI-H292. hlFVII-LDP-AE caused chromatin condensation and cleavage of genomic DNA in NCI-H292 cells. 22108624 2012
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.050 Biomarker phenotype BEFREE Aminopeptidase N (APN/CD13) is a zinc-dependent M1 aminopeptidase that contributes to cancer progression by promoting angiogenesis, metastasis, and tumor invasion. 31251594 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.050 AlteredExpression phenotype BEFREE Plasmodium falciparum dipeptidyl aminopeptidase 3 activity is important for efficient erythrocyte invasion by the malaria parasite. 29768491 2018