MEGF10, multiple EGF like domains 10, 84466

N. diseases: 41; N. variants: 17
Disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1850674
Disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder) 		0.020 Biomarker disease 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: 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