MEGF10, multiple EGF like domains 10, 84466

N. diseases: 41; N. variants: 17
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3280679
Disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET 		0.740 Biomarker disease BEFREE Megf10 regulation of myoblast function appears to be mediated at least in part via interactions with key components of the Notch signaling pathway, and defects in these interactions may contribute to the pathogenesis of EMARDD. 28498977 2017
CUI: C3280679
Disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET 		0.740 GeneticVariation disease BEFREE By novel analysis of SNP array hybridization and exome sequence coverage, we diagnosed a 10-years old girl with EMARDD following identification of a novel homozygous deletion of exon 7 in MEGF10. 23453856 2013
CUI: C3280679
Disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET 		0.740 GeneticVariation disease BEFREE We here present two Japanese patients with MEGF10 mutations: one with EMARDD phenotype who had a novel homozygous frameshift mutation, c.131_132del, and the other with the milder phenotype who harbored a compound heterozygous mutation, c.2981-2A > G, and a novel missense mutation, p.Cys810Tyr. 27460346 2016
CUI: C3280679
Disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET 		0.740 Biomarker disease BEFREE Our studies reveal that Megf10 is a receptor for C1q and identify a novel role for Megf10 in clearance of apoptotic cells in the mammalian developing brain with potential relevance to EMARDD patients and other CNS disorders. 27170117 2016
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.450 GeneticVariation group BEFREE Mutations in MEGF10 cause early onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD), a rare congenital muscle disease, but the pathogenic mechanisms remain largely unknown. 28498977 2017
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.450 GeneticVariation group BEFREE Multiple EGF-like domains 10 (Megf10) is a class F scavenger receptor (SR-F3) expressed on astrocytes and myosatellite cells, and recessive mutations in humans result in early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD). 27170117 2016
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.450 GeneticVariation group BEFREE Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). 23453856 2013
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.450 GeneticVariation group BEFREE Mutations in the multiple epidermal growth factor-like domains 10 (MEGF10: NM_032446.2) gene are known to cause early-onset myopathy characterized by areflexia, respiratory distress, and dysphagia (EMARDD: OMIM 614399), and a milder phenotype of minicore myopathy. 27460346 2016
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.450 AlteredExpression group BEFREE MEGF10 is highly expressed in activated satellite cells and regulates their proliferation as well as their differentiation and fusion into multinucleated myofibers, which are greatly reduced in muscle from individuals with early onset myopathy, areflexia, respiratory distress and dysphagia. 22101682 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.410 AlteredExpression disease BEFREE The expression of MEGF10 was also compared between healthy control subjects and schizophrenia patients using postmortem brain cDNA libraries. 18179784 2008
CUI: C0026848
Disease: Myopathy
Myopathy 		0.400 Biomarker group BEFREE This is the first report on East Asian patients with MEGF10 myopathy showing two phenotypes, indicating the genotype-phenotype correlation in MEGF10 myopathy. 27460346 2016
CUI: C0026848
Disease: Myopathy
Myopathy 		0.400 GeneticVariation group BEFREE Mutations in MEGF10 cause early onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD), a rare congenital muscle disease, but the pathogenic mechanisms remain largely unknown. 28498977 2017
CUI: C0026848
Disease: Myopathy
Myopathy 		0.400 GeneticVariation group BEFREE Multiple EGF-like domains 10 (Megf10) is a class F scavenger receptor (SR-F3) expressed on astrocytes and myosatellite cells, and recessive mutations in humans result in early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD). 27170117 2016
CUI: C0026848
Disease: Myopathy
Myopathy 		0.400 AlteredExpression group BEFREE MEGF10 is highly expressed in activated satellite cells and regulates their proliferation as well as their differentiation and fusion into multinucleated myofibers, which are greatly reduced in muscle from individuals with early onset myopathy, areflexia, respiratory distress and dysphagia. 22101682 2011
CUI: C0026848
Disease: Myopathy
Myopathy 		0.400 GeneticVariation group BEFREE Our analysis of drpr mutant flies revealed muscle degeneration with fiber size variability and vacuolization, as well as reduced motor performance, features that have been observed in human MEGF10 myopathy. 25111228 2014
CUI: C0026848
Disease: Myopathy
Myopathy 		0.400 GeneticVariation group BEFREE Screening the MEGF10 open reading frame in 190 patients with genetically unexplained myopathies revealed a heterozygous mutation, c.211C > T (p.R71W), in one additional subject with a similar clinical and histological presentation as the discovery family. 22371254 2012
CUI: C0026848
Disease: Myopathy
Myopathy 		0.400 Biomarker group BEFREE Selective serotonin reuptake inhibitors ameliorate MEGF10 myopathy. 31267131 2019
CUI: C0026848
Disease: Myopathy
Myopathy 		0.400 Biomarker group BEFREE MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypes. 29128256 2018
CUI: C0026848
Disease: Myopathy
Myopathy 		0.400 GeneticVariation group BEFREE MEGF10 mutations can cause myopathy with adult-onset respiratory insufficiency. 26802438 2016
CUI: C0026848
Disease: Myopathy
Myopathy 		0.400 GeneticVariation group BEFREE Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). 23453856 2013
CUI: C0026848
Disease: Myopathy
Myopathy 		0.400 Biomarker group BEFREE Recessive mutations in multiple epidermal growth factor-like domains 10 (MEGF10) underlie a rare congenital muscle disease known as MEGF10 myopathy. 30802937 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.120 Biomarker disease BEFREE Here, we show that the highly conserved glial engulfment receptor Draper/MEGF10 provides neuroprotection in an AD model of <i>Drosophila</i> (both sexes). 29109235 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.120 Biomarker disease BEFREE Thus, the identification of the MEGF10 as a functional receptor that mediates the uptake of amyloid-β peptide will help elucidate the molecular mechanisms of amlyoid-β clearance in Alzheimer's disease. 20828568 2010
CUI: C0476273
Disease: Respiratory distress
Respiratory distress 		0.120 GeneticVariation phenotype BEFREE Early-onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD) is a myopathic disorder associated with mutations in MEGF10. 23453856 2013
CUI: C0476273
Disease: Respiratory distress
Respiratory distress 		0.120 AlteredExpression phenotype BEFREE MEGF10 is highly expressed in activated satellite cells and regulates their proliferation as well as their differentiation and fusion into multinucleated myofibers, which are greatly reduced in muscle from individuals with early onset myopathy, areflexia, respiratory distress and dysphagia. 22101682 2011