Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 84466
Gene Symbol: MEGF10
MEGF10
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
Entrez Id: 84466
Gene Symbol: MEGF10
MEGF10
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
Entrez Id: 84466
Gene Symbol: MEGF10
MEGF10
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
Entrez Id: 84466
Gene Symbol: MEGF10
MEGF10
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
Entrez Id: 84466
Gene Symbol: MEGF10
MEGF10
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
Entrez Id: 84466
Gene Symbol: MEGF10
MEGF10
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
Entrez Id: 84466
Gene Symbol: MEGF10
MEGF10
0.450 Biomarker group HPO