Disease: Distal Muscular Dystrophies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		0.370 GeneticVariation group BEFREE Patients with distal myopathies from Kuwait were examined and tested for the Middle Eastern GNE gene founder mutation, p.M743T. 30192030 2018
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		0.370 GeneticVariation group BEFREE The GNE gene mutations are known to cause this form of distal myopathy 24005727 2014
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		0.370 Biomarker group GENOMICS_ENGLAND Two recurrent mutations are associated with GNE myopathy in the North of Britain. 24695763 2014
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		0.370 GeneticVariation group LHGDN Distal myopathy with rimmed vacuoles (DMRV) or hereditary inclusion body myopathy (hIBM) is an early adult-onset distal myopathy caused by mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene which encodes for a bifunctional enzyme involved in sialic acid biosynthesis. 17704511 2007
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		0.370 GeneticVariation group LHGDN Distal myopathy with rimmed vacuoles (DMRV) or hereditary inclusion myopathy (h-IBM) is an early adult-onset distal myopathy caused by mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene which encodes for a bifunctional enzyme involved in sialic acid biosynthesis. 17164266 2007
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		0.370 GeneticVariation group LHGDN Distal myopathy with rimmed vacuoles (DMRV) is an early-adult-onset, distal myopathy caused by a mutation of the UDP-N-acetylglucosamine 2 epimerase/N-acetylmannosamine kinase (GNE) gene. 16810679 2006
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		0.370 GeneticVariation group BEFREE Recently, mutations of the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) gene were reported to cause hereditary inclusion body myopathy and one type of distal myopathy in a world-wide distribution. 14678807 2003
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		0.370 GeneticVariation group LHGDN Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene. 12177386 2002