| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | ||||
|
0.370 | GeneticVariation | group | BEFREE | The GNE gene mutations are known to cause this form of distal myopathy | 24005727 | 2014 | ||||
|
0.370 | Biomarker | group | GENOMICS_ENGLAND | Two recurrent mutations are associated with GNE myopathy in the North of Britain. | 24695763 | 2014 | ||||
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
0.370 | GeneticVariation | group | LHGDN | Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene. | 12177386 | 2002 |