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 GeneticVariation disease UNIPROT Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. 22371254 2012
CUI: C3280679
Disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET 		0.740 GeneticVariation disease UNIPROT Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). 22101682 2011
CUI: C3280679
Disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET 		0.740 GeneticVariation disease CLINVAR Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). 22101682 2011
CUI: C3280679
Disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET 		0.740 GeneticVariation disease UNIPROT Cysteine mutations cause defective tyrosine phosphorylation in MEGF10 myopathy. 23954233 2013
CUI: C3280679
Disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET 		0.740 GeneticVariation disease UNIPROT 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 UNIPROT 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: C3280679
Disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET 		0.740 GeneticVariation disease CLINVAR Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. 22371254 2012
CUI: C3280679
Disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET 		0.740 GeneticVariation disease CLINVAR Cysteine mutations cause defective tyrosine phosphorylation in MEGF10 myopathy. 23954233 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 GeneticVariation disease CLINVAR 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: 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: C0036341
Disease: Schizophrenia
Schizophrenia 		0.410 GeneticVariation disease GWASCAT Five novel loci associated with antipsychotic treatment response in patients with schizophrenia: a genome-wide association study. 29503163 2018
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 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 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: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.120 GeneticVariation disease GWASDB Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. 23535033 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.120 GeneticVariation disease GWASCAT Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. 23535033 2014
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