Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 GeneticVariation disease BEFREE We report a patient with GNE myopathy with a homozygous mutation (c.1505-4G>A) in GNE gene. 27919547 2017
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 GeneticVariation disease BEFREE GNE mutations causing distal myopathy with rimmed vacuoles with inflammation. 12913203 2003
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 GeneticVariation disease BEFREE Hereditary inclusion-body myopathy or distal myopathy with rimmed vacuoles (h-IBM/DMRV) is due to mutations of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene, which codes for an enzyme of the sialic acid biosynthetic pathway. 20644153 2010
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 GeneticVariation disease BEFREE GNE myopathy (MIM 600737) is an autosomal recessive muscle disease caused by mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. 22231866 2012
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 GeneticVariation disease BEFREE Most of the current information on GNE myopathy has been obtained through studies of Jewish and Japanese patient cohorts carrying founder mutations in the GNE gene. 24695763 2014
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 GeneticVariation disease BEFREE Our findings expand the genetic spectrum of DMRV and indicate that the common mutations of GNE gene in DMRV may be variable among different ethnic populations. 21307865 2011
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 GeneticVariation disease BEFREE Our study demonstrates the mutation spectrum of the GNE gene in Thai patients with DMRV. 16810679 2006
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 GeneticVariation disease BEFREE Autosomal recessive hereditary inclusion-body myopathy (h-IBM) is caused by mutations of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene, a rate-limiting enzyme in the sialic acid metabolic pathway. 18182043 2008
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 GeneticVariation disease BEFREE Mutation of methionine 743 in the GNE leads to a 30% reduction of the enzyme activity and is responsible for an aggressive form of GNE myopathy. 27037841 2016
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 GeneticVariation disease BEFREE Hereditary inclusion body myopathy (HIBM) is a genetic muscle disease due to mutations in the gene encoding the enzyme complex UDP-N-acetylglucosamine 2 epimerase-N-acetylmannosamine kinase (GNE), which catalyzes the rate-limiting step in sialic acid production. 19019317 2008
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 GeneticVariation disease BEFREE The homozygous M712T mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathy. 15147877 2004
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 GeneticVariation disease BEFREE This study aimed to investigate the variability of clinical and morphological presentation and the spectrum of Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE) mutations in Chinese DMRV patients. 22196754 2011
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 GeneticVariation disease BEFREE Mutation analysis of the GNE gene associated with IBM2 in affected individuals from four IBMPFD families did not identify any mutations, indicating that the two disorders are not allelic. 12921793 2003
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 GeneticVariation disease BEFREE Mutation update for GNE gene variants associated with GNE myopathy. 24796702 2014
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 GeneticVariation disease BEFREE This is the first deletion event observed in a GNE allele and expands the molecular pathogenesis of autosomal-recessive h-IBM. 12811782 2003
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 GeneticVariation disease BEFREE Mutations in the glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene cause GNE myopathy, a mildly progressive autosomal recessive myopathy. 24656604 2014
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 GeneticVariation disease BEFREE A single patient (patient 001) with severe HIBM treated with a compassionate investigational new drug received seven doses of GNE gene lipoplex via intravenous infusion at the following doses: 0.4, 0.4, 1.0, 4.0, 5.0, 6.0, and 7.0 mg of DNA. 21517694 2011
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 GeneticVariation disease BEFREE UDP N-acetylglucosamine2-epimerase/N-acetylmannosamine-kinase (GNE) gene mutations can cause mostly autosomal-recessive myopathy with juvenile-onset known as hereditary inclusion-body myopathy (HIBM). 30990900 2019
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 Biomarker disease BEFREE Our study clearly demonstrates that Dd can be used as an expression host for the production of recombinant and functionally active form of GNE and its mutant proteins that can be used for biophysical characterization and structural determination of GNE to understand the pathomechanism of HIBM. 25230235 2014
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 GeneticVariation disease BEFREE GNE myopathy is a rare autosomal recessive inheritance disease due to the mutation of GNE gene. 28284578 2017
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 GeneticVariation disease BEFREE To elucidate the pathological mechanisms leading from the mutated GNE to the HIBM phenotype, we attempted to identify and characterize early occurring downstream events by analyzing the genomic expression patterns of muscle specimens from 10 HIBM patients carrying the M712T Persian Jewish founder mutation and presenting mild histological changes, compared with 10 healthy matched control individuals, using GeneChip expression microarrays. 18723858 2008
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 GeneticVariation disease BEFREE A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. 17704511 2007
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 Biomarker disease BEFREE We developed individual GNE and MNK enzymatic assays and determined reduced activities in cultured fibroblasts of patients, with HIBM harboring missense mutations in either or both the GNE and MNK enzymatic domains. 15987957 2005
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 Biomarker disease BEFREE The generation of HIBM animal models has led to novel insights into both the disease and the role of GNE/MNK in pathophysiology. 19596068 2009
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 GeneticVariation disease BEFREE The linkage scan excluded the majority of known myopathy genes, but one linkage peak included the gene GNE, in which mutations cause autosomal recessive hereditary inclusion body myopathy type 2 (HIBM2). 21708040 2011