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: C0009663
Disease: Condylomata Acuminata
Condylomata Acuminata 		0.010 AlteredExpression disease BEFREE In this study, the expression of MPS-1 mRNA and protein were examined in HPV-induced human condylomata acuminata. 8074479 1994
CUI: C0302180
Disease: Condyloma
Condyloma 		0.010 Biomarker disease BEFREE MPS-1 immunoreactivity was detected in the cytoplasm and/or the perinuclear regions of condylomata cells, with marked staining in areas of active proliferation. 8074479 1994
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		0.100 GeneticVariation disease BEFREE Previous studies in Caucasian populations showed that (1) homozygosity or compound heterozygosity for the W402X and Q70X mutations are the common causes of MPS-I with a severe form (Hurler syndrome), and (2) the presence of R89Q may lead to a milder phenotype. 8664897 1996
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: 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: C0029453
Disease: Osteopenia
Osteopenia 		0.010 Biomarker disease BEFREE The bone loss of rats infected with the MPG1 was higher than that of those infected with MPG67. 12593606 2003
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: 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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.090 Biomarker group BEFREE We propose that MPS1-dependent BLM phosphorylation is important for ensuring accurate chromosome segregation, and its deregulation may contribute to cancer. 16864798 2006
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.060 Biomarker group BEFREE We propose that MPS1-dependent BLM phosphorylation is important for ensuring accurate chromosome segregation, and its deregulation may contribute to cancer. 16864798 2006
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		0.010 GeneticVariation disease BEFREE Some studies have also reported that neurons containing AD-linked mutant presenilins (mPS1) show increased vulnerability to various stresses, while others report no differences in neuronal death. 17927985 2007
CUI: C0026703
Disease: Mucopolysaccharidoses
Mucopolysaccharidoses 		0.100 Biomarker disease BEFREE One hundred thirteen patients with MPS were included (MPS I: 18, MPS II: 43, MPS IIIA: 2, MPS IIIB: 3, MPS IIIC: 1, MPS IVA: 15, MPS IVB: 1, MPS VI: 29, MPS VII: 1) from 97 families. 18546277 2008
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		0.060 GeneticVariation disease BEFREE Skeletal abnormalities (for MPS IVA and MPS VI), joint contractures (for MPS II), and typical facial features (for MPS I) were the most frequently reported first signs/symptoms. 18546277 2008
CUI: C0009918
Disease: Contracture of joint
Contracture of joint 		0.010 Biomarker disease BEFREE Skeletal abnormalities (for MPS IVA and MPS VI), joint contractures (for MPS II), and typical facial features (for MPS I) were the most frequently reported first signs/symptoms. 18546277 2008
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases 		0.070 Biomarker group BEFREE Therefore, immune tolerance to iduronidase improved the efficacy of enzyme replacement therapy with recombinant iduronidase in canine MPS I and could potentially improve outcomes in patients with MPS I and other lysosomal storage diseases. 18654665 2008
CUI: C0037926
Disease: Compression of spinal cord
Compression of spinal cord 		0.010 Biomarker disease BEFREE In conclusion, although the improvement observed in this case with IT laronidase should be confirmed in further patients, this procedure seems to be a safe treatment for SCC in MPS I. 18792977 2008
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.010 Biomarker disease BEFREE MPS-1 has been found to be increased in the sera of a number of different cancers, including head and neck squamous cell carcinoma (HNSCC). 19642098 2010
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.080 AlteredExpression disease BEFREE Lysosomal gag levels in MPS IIIA and MPS I fibroblasts were also reduced by EXTL2 and EXTL3-specific shRNA. 19690583 2010
CUI: C0026703
Disease: Mucopolysaccharidoses
Mucopolysaccharidoses 		0.100 GeneticVariation disease BEFREE Although enzyme replacement therapy has become available for some MPS types (MPS I, MPS II and MPS VI), this treatment is not efficient when neurological symptoms occur, especially in MPS III (Sanfilippo disease). 19690584 2010
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.080 Biomarker disease BEFREE Although enzyme replacement therapy has become available for some MPS types (MPS I, MPS II and MPS VI), this treatment is not efficient when neurological symptoms occur, especially in MPS III (Sanfilippo disease). 19690584 2010
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