MPEG1, macrophage expressed 1, 219972

N. diseases: 98; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026703
Disease: Mucopolysaccharidoses
Mucopolysaccharidoses 		0.100 GeneticVariation disease BEFREE Among 153 subjects enrolled in this study, 13 had a confirmative diagnosis of MPS (age range, 0.6 to 10.9 years-three with MPS I, four with MPS II, five with MPS IIIB, and one with MPS IVA). 31590383 2019
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		0.100 Biomarker disease BEFREE An examination of more complex MPS I-H phenotypes in Idua(tm1Kmke) mice following 28-week NB84 treatment revealed significant moderation of the disease in multiple tissues, including the brain, heart and bone, that are resistant to current MPS I-H therapies. 24411223 2014
CUI: C0236794
Disease: Panic disorder without agoraphobia
Panic disorder without agoraphobia 		0.010 GeneticVariation disease BEFREE Association analysis in an extended sample of German patients (n = 88) revealed a significant excess of the shorter CREM P 2 promoter eight-repeat trinucleotide allele and of genotypes containing the eight-repeat trinucleotide allele in panic disorder (P = 0.02), in particular in panic disorder without agoraphobia (P = 0.001). 12555239 2003
CUI: C0026703
Disease: Mucopolysaccharidoses
Mucopolysaccharidoses 		0.100 Biomarker disease BEFREE Background Mucopolysaccharidosis type 1 (MPS1) is a rare debilitating multisystem lysosomal disorder resulting due to the deficiency of α-L-iduronidase enzyme (IDUA), caused by recessive mutations in the IDUA gene. 31473686 2019
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		0.100 Biomarker disease BEFREE Bone marrow transplantation is the therapy of choice in patients affected by MPS I (Hurler syndrome), but a high incidence of rejection limits the success of this treatment. 16435198 2005
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.050 AlteredExpression disease BEFREE Both MPS1 and miR-21 depletion suppressed GBM cell proliferation, whereas, ectopic expression of miR-21 rescued GBM cell growth from MPS1 inhibition. 25991676 2016
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.050 AlteredExpression disease BEFREE Both MPS1 and miR-21 depletion suppressed GBM cell proliferation, whereas, ectopic expression of miR-21 rescued GBM cell growth from MPS1 inhibition. 25991676 2016
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.060 AlteredExpression phenotype BEFREE BRAF<sup>V600E</sup> has been revealed to contribute to tumorigenesis by the activation of phospho-mitogen-activated protein kinases (MAPKs) and their downstream Monopolar spindle 1 (Mps1), leading to chromosome euploidy and tumor development. 29805692 2018
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.020 Biomarker disease BEFREE Collectively, our findings suggest that MPS-1 regulates cell invasiveness and migration partially through ITGB4 and that MPS-1/ITGB4 signaling axis may serve as therapeutic targets in the treatment of gastric cancer. 23803695 2013
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.020 Biomarker disease BEFREE Collectively, our findings suggest that MPS-1 regulates cell invasiveness and migration partially through ITGB4 and that MPS-1/ITGB4 signaling axis may serve as therapeutic targets in the treatment of gastric cancer. 23803695 2013
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.060 AlteredExpression phenotype BEFREE Collectively, our findings suggest that high levels of Mps1 contribute to tumorigenesis by attenuating the spindle assembly checkpoint. 25063032 2014
CUI: C0042798
Disease: Low Vision
Low Vision 		0.010 GeneticVariation disease BEFREE Corneal clouding, causing visual impairment, is seen in nearly all patients with Mucopolysaccharidosis type 1 (MPS-1). 31786241 2019
CUI: C0026703
Disease: Mucopolysaccharidoses
Mucopolysaccharidoses 		0.100 Biomarker disease BEFREE Corneal clouding, causing visual impairment, is seen in nearly all patients with Mucopolysaccharidosis type 1 (MPS-1). 31786241 2019
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies 		0.010 Biomarker group BEFREE Correction of metabolic, craniofacial, and neurologic abnormalities in MPS I mice treated at birth with adeno-associated virus vector transducing the human alpha-L-iduronidase gene. 15194053 2004
CUI: C3825414
Disease: Pain in children
Pain in children 		0.010 GeneticVariation phenotype BEFREE Data from this small pilot study suggest that treatment with adalimumab is safe, tolerable, and may improve ROM, physical function, and possibly pain, in children with MPS I or II. 28119823 2017
CUI: C0025521
Disease: Inborn Errors of Metabolism
Inborn Errors of Metabolism 		0.020 Biomarker group BEFREE Early and accurate diagnosis is crucial for the disease management and implementation of an expanded new-born genetic screening program for inborn errors of metabolism including MPS1. 31473686 2019
CUI: C0019207
Disease: Hepatoma, Morris
Hepatoma, Morris 		0.300 Biomarker disease CTD_human Expression profiling and identification of novel genes in hepatocellular carcinomas. 11420682 2001
CUI: C0019208
Disease: Hepatoma, Novikoff
Hepatoma, Novikoff 		0.300 Biomarker disease CTD_human Expression profiling and identification of novel genes in hepatocellular carcinomas. 11420682 2001
CUI: C0023904
Disease: Liver Neoplasms, Experimental
Liver Neoplasms, Experimental 		0.300 Biomarker phenotype CTD_human Expression profiling and identification of novel genes in hepatocellular carcinomas. 11420682 2001
CUI: C0086404
Disease: Experimental Hepatoma
Experimental Hepatoma 		0.300 Biomarker disease CTD_human Expression profiling and identification of novel genes in hepatocellular carcinomas. 11420682 2001
CUI: C0030319
Disease: Panic Disorder
Panic Disorder 		0.010 GeneticVariation disease BEFREE Functional analysis of the observed CREM P 2 promoter polymorphism as well as studies in independent panic disorder samples are necessary. 12555239 2003
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.020 AlteredExpression disease BEFREE Further, we find that forced expression of Mps1 in the colon cancer cell line SW480 enables cells to become resistant to both Mps1 inhibition-induced checkpoint depletion and cell death. 25063032 2014
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.020 AlteredExpression disease BEFREE Further, we find that forced expression of Mps1 in the colon cancer cell line SW480 enables cells to become resistant to both Mps1 inhibition-induced checkpoint depletion and cell death. 25063032 2014
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.020 Biomarker phenotype BEFREE Furthermore, by using Signal-Net and cluster analyses of microarray data we identified integrin β4 (ITGB4) as a downstream target of MPS-1 that mediates its effects on cell metastasis. 23803695 2013
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		0.100 Biomarker disease BEFREE Here we report the characterization of a knock-in mouse model for the autosomal recessive disorder mucopolysaccharidosis type I-Hurler (MPS I-H), also known as Hurler syndrome. 19751987 2010