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: C1145670
Disease: Respiratory Failure
Respiratory Failure 		0.120 GeneticVariation disease BEFREE MEGF10 mutations can cause myopathy with adult-onset respiratory insufficiency. 26802438 2016
CUI: C1850674
Disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder) 		0.020 GeneticVariation disease BEFREE Adult-onset respiratory insufficiency, scoliosis, and distal joint hyperlaxity in patients with multiminicore disease due to novel Megf10 mutations. 26802438 2016
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.010 GeneticVariation disease BEFREE To investigate the role of MEGF10 variants with putative transcription regulatory function in the etiology of autism, we performed a family-based association study in 410 Chinese Han trios. 28536440 2017
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		0.010 GeneticVariation group BEFREE Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. 22371254 2012
CUI: C0270962
Disease: Multi-core congenital myopathy
Multi-core congenital myopathy 		0.010 GeneticVariation disease BEFREE Adult-onset respiratory insufficiency, scoliosis, and distal joint hyperlaxity in patients with multiminicore disease due to novel Megf10 mutations. 26802438 2016
CUI: C3280679
Disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET 		0.740 Biomarker disease CLINGEN 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 GENOMICS_ENGLAND 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 Biomarker disease CLINGEN 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 Biomarker disease CLINGEN 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 Biomarker disease CLINGEN 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 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 Biomarker disease GENOMICS_ENGLAND 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 Biomarker disease CLINGEN Megf10 regulates the progression of the satellite cell myogenic program. 18056409 2007
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: C3280679
Disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET 		0.740 Biomarker disease GENOMICS_ENGLAND
CUI: C3280679
Disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET 		0.740 Biomarker disease CLINGEN 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: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.450 Biomarker group HPO
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.450 Biomarker group CTD_human 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 Biomarker disease PSYGENET 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 Biomarker group BEFREE Selective serotonin reuptake inhibitors ameliorate MEGF10 myopathy. 31267131 2019
CUI: C0026848
Disease: Myopathy
Myopathy 		0.400 Biomarker group CTD_human 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 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 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: C0035220
Disease: Respiratory Distress Syndrome, Newborn
Respiratory Distress Syndrome, Newborn 		0.300 Biomarker disease CTD_human Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). 22101682 2011