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: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE Whole-genome duplication increases tumor cell sensitivity to MPS1 inhibition. 26637805 2016
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.010 Biomarker disease BEFREE We used transparent transgenic zebrafish larvae Tg(lysc:EGFP), Tg(mpx:EGFP), Tg(mpeg1:EGFP), Tg(flk1:EGFP) or Tg(lysc:EGFP/flk1:mCherry), together with fluorescently labeled control and high cholesterol diets (HCD), to dynamically investigate the early development of atherosclerosis with confocal in vivo. 31614249 2019
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.010 Biomarker disease BEFREE We used transparent transgenic zebrafish larvae Tg(lysc:EGFP), Tg(mpx:EGFP), Tg(mpeg1:EGFP), Tg(flk1:EGFP) or Tg(lysc:EGFP/flk1:mCherry), together with fluorescently labeled control and high cholesterol diets (HCD), to dynamically investigate the early development of atherosclerosis with confocal in vivo. 31614249 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		0.010 Biomarker disease BEFREE We used transparent transgenic zebrafish larvae Tg(lysc:EGFP), Tg(mpx:EGFP), Tg(mpeg1:EGFP), Tg(flk1:EGFP) or Tg(lysc:EGFP/flk1:mCherry), together with fluorescently labeled control and high cholesterol diets (HCD), to dynamically investigate the early development of atherosclerosis with confocal in vivo. 31614249 2019
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.020 AlteredExpression disease BEFREE We show that the dual specificity kinase TTK (also known as Mps1), is strongly overexpressed in human PDAC. 25137017 2014
CUI: C0004623
Disease: Bacterial Infections
Bacterial Infections 		0.010 AlteredExpression group BEFREE We show that primary embryonic and established fibroblasts can be induced by interferons or by intracellular bacterial infection to express a perforin-like mRNA previously described as macrophage-expressed gene 1 (Mpeg1). 23257510 2013
CUI: C0026703
Disease: Mucopolysaccharidoses
Mucopolysaccharidoses 		0.100 GeneticVariation disease BEFREE We retrospectively reviewed the clinical ophthalmologic features and electrodiagnostic results of 50 Taiwanese patients with a diagnosis of MPS (34 males and 16 females; age range, 1.1-34.9 years; nine with MPS I, 17 with MPS II, 17 with MPS IV, and seven with MPS VI). 30848093 2019
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.020 AlteredExpression disease BEFREE We reported previously that MPS-1 was highly expressed in human gastric cancer. 21796632 2012
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.020 AlteredExpression disease BEFREE We reported previously that MPS-1 was highly expressed in human gastric cancer. 21796632 2012
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.060 GeneticVariation phenotype BEFREE We propose that continuously activated BRAF(V600E) signaling may be a possible mechanism for the deregulation of Mps1 stability and kinase activity in human tumors, and that persistent phosphorylation of Mps1 through BRAF(V600E) signaling is a key event in disrupting the control of centrosome duplication and chromosome stability that may contribute to tumorigenesis. 22430208 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE We propose that continuously activated BRAF(V600E) signaling may be a possible mechanism for the deregulation of Mps1 stability and kinase activity in human tumors, and that persistent phosphorylation of Mps1 through BRAF(V600E) signaling is a key event in disrupting the control of centrosome duplication and chromosome stability that may contribute to tumorigenesis. 22430208 2013
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: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.020 AlteredExpression disease BEFREE We identified a 25 gene subset (PDAC CIN25) whose overexpression was most strongly correlated with poor survival and included MPS1. 24282275 2014
CUI: C2713321
Disease: alpha-L-Iduronidase Deficiency
alpha-L-Iduronidase Deficiency 		0.020 GeneticVariation disease BEFREE We hypothesize that suppression therapy can attenuate the lysosomal storage disease mucopolysaccharidosis type I-Hurler (MPS I-H), the severe form of α-L-iduronidase deficiency. 24411223 2014
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		0.050 Biomarker disease BEFREE We hypothesize that suppression therapy can attenuate the lysosomal storage disease mucopolysaccharidosis type I-Hurler (MPS I-H), the severe form of α-L-iduronidase deficiency. 24411223 2014
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases 		0.070 Biomarker group BEFREE We hypothesize that suppression therapy can attenuate the lysosomal storage disease mucopolysaccharidosis type I-Hurler (MPS I-H), the severe form of α-L-iduronidase deficiency. 24411223 2014
CUI: C0018609
Disease: Hartnup Disease
Hartnup Disease 		0.020 GeneticVariation disease BEFREE We found that the phenotype in homozygous Idua-W392X mice closely correlated with the human MPS I-H disease. 19751987 2010
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases 		0.070 GeneticVariation group BEFREE We describe the initial results of a neonatal screening program for four lysosomal storage diseases (MPS I, Pompe, Gaucher and Fabry) using the digital microfluidics methodology. 29870571 2019
CUI: C0086648
Disease: MPS III B
MPS III B 		0.010 Biomarker disease BEFREE We demonstrate that this protein is able to reduce lysosomal defects in primary fibroblasts from MPS I and MPS IIIB patients. 29942826 2018
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		0.100 Biomarker disease BEFREE We conducted molecular analysis for 60 MPS-affected patients [MPS I (n = 30) (Hurler syndrome = 17, Hurler-Scheie syndrome = 13), and MPS II (n = 30) (severe = 18, attenuated = 12)] and identified a total of 44 [MPS I (n = 22) and MPS II (n = 22)] different pathogenic variants comprising missense, nonsense, frameshift, gross deletions and splice site variants. 27146977 2016
CUI: C0026703
Disease: Mucopolysaccharidoses
Mucopolysaccharidoses 		0.100 Biomarker disease BEFREE We conducted molecular analysis for 60 MPS-affected patients [MPS I (n = 30) (Hurler syndrome = 17, Hurler-Scheie syndrome = 13), and MPS II (n = 30) (severe = 18, attenuated = 12)] and identified a total of 44 [MPS I (n = 22) and MPS II (n = 22)] different pathogenic variants comprising missense, nonsense, frameshift, gross deletions and splice site variants. 27146977 2016
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases 		0.070 Biomarker group BEFREE We conducted a consented pilot newborn screening (NBS) for Pompe, Gaucher, Niemann-Pick A/B, Fabry, and MPS 1 to assess the suitability of these lysosomal storage disorders (LSDs) for public health mandated screening. 30093709 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 AlteredExpression group BEFREE Using publicly available gene expression data, we determined that MPS1 overexpression corresponds positively with tumor grade and negatively with patient survival (two-sided t test, P < .001). 23940287 2013
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		0.060 Biomarker disease BEFREE Using defined age ranges and treatment naïve patient samples we confirmed an increase in glycosylated hydroxylysines in MPS I and in adult MPS IVA. 31452203 2020