SPPL2A, signal peptide peptidase like 2A, 84888

N. diseases: 22; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.110 Biomarker disease BEFREE γ-Secretase is an intramembrane-cleaving protease that generates the toxic species of the amyloid-β peptide (Aβ) that is responsible for the pathology of Alzheimer disease. 31527118 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.110 GeneticVariation disease GWASDB Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. 24162737 2013
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.110 GeneticVariation disease GWASCAT Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. 24162737 2013
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0337434
Disease: Estradiol measurement
Estradiol measurement
0.100 GeneticVariation phenotype GWASCAT Genetic Association Study of Eight Steroid Hormones and Implications for Sexual Dimorphism of Coronary Artery Disease. 31169883 2019
CUI: C1443016
Disease: Estradiol level result
Estradiol level result
0.100 GeneticVariation phenotype GWASCAT Genetic Association Study of Eight Steroid Hormones and Implications for Sexual Dimorphism of Coronary Artery Disease. 31169883 2019
CUI: C0021704
Disease: Intelligence
Intelligence
0.100 GeneticVariation phenotype GWASCAT Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 29844566 2018
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay
0.100 GeneticVariation phenotype GWASCAT Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study. 28107422 2017
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure)
0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay
0.100 GeneticVariation phenotype GWASCAT A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration. 26561523 2016
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay
0.100 GeneticVariation phenotype GWASCAT Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease. 23969696 2013
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay
0.100 GeneticVariation phenotype GWASDB Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease. 23969696 2013
CUI: C1325327
Disease: fibrinogen activity
fibrinogen activity
0.100 GeneticVariation phenotype GWASDB Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease. 23969696 2013
CUI: C1561955
Disease: Fibrinogen, CTCAE
Fibrinogen, CTCAE
0.100 GeneticVariation phenotype GWASDB Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease. 23969696 2013
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.030 Biomarker group BEFREE Thus, we believe that SPPL2a represents an interesting and druggable pharmacological target, potentially providing a novel approach for the treatment of autoimmune diseases by targeting B cells and dendritic cells. 29359565 2018
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.030 Biomarker group BEFREE The intramembrane protease signal peptide peptidase-like 2a (SPPL2a) is a potential drug target for the treatment of autoimmune diseases due to an essential role in B cells and dendritic cells. 28731783 2017
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.030 Biomarker group BEFREE Nevertheless, inhibition of SPPL2a has been suggested as novel approach to target B cells for treating autoimmunity. 25035924 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 Biomarker group BEFREE Positive staining for IMP-3 was observed in 74% (71/96) of the tumors. 22012575 2012
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 AlteredExpression group BEFREE IMP-3, a member of the insulin-like growth factor-II (IGF-II) mRNA-binding protein (IMP) family, is expressed mainly during embryonic development and in some tumors. 15753088 2005
CUI: C0007129
Disease: Merkel cell carcinoma
Merkel cell carcinoma
0.010 AlteredExpression disease BEFREE The CT antigens SP-17, IMP-3, and TMEFF1 were selected using transcriptome profiling to identify CT antigens expressed in MCC tumors. 31218705 2019
Squamous cell carcinoma of esophagus
0.010 AlteredExpression disease BEFREE Prognostic significance of IMP-3 expression pattern in esophageal squamous cell carcinoma. 31656650 2019
CUI: C0026918
Disease: Mycobacterium Infections
Mycobacterium Infections
0.010 Biomarker group BEFREE These findings suggest that inherited SPPL2a deficiency in humans underlies mycobacterial disease by decreasing the numbers of cDC2s and impairing IFN-γ production by mycobacterium-specific memory T<sub>H</sub>1* cells. 30127434 2018
CUI: C0862312
Disease: Epithelioid mesothelioma, malignant
Epithelioid mesothelioma, malignant
0.010 Biomarker disease BEFREE In the immunohistochemical analysis, Noxa showed sensitivity of 69.0%, specificity of 93.6% and positive predictive value of 93.0% as a positive marker of EM in distinguishing it from RMH, and these values were almost similar to IMP-3. 26735863 2016
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 Biomarker group BEFREE Multiple studies have linked high expression of IMP proteins, and especially of IMP-3, to an unfavorable prognosis in numerous types of cancer. 23812426 2014
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 Biomarker group BEFREE Multiple studies have linked high expression of IMP proteins, and especially of IMP-3, to an unfavorable prognosis in numerous types of cancer. 23812426 2014