Disease: Sialuria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342853
Disease: Sialuria
Sialuria 		0.760 GeneticVariation disease BEFREE Here we established a transgenic mouse line that expresses GNE containing the sialuria mutation R263L, in order to investigate the influence of an altered sialic acid concentration on the organism. 27966821 2017
CUI: C0342853
Disease: Sialuria
Sialuria 		0.760 GeneticVariation disease CLINVAR Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy. 28717665 2017
CUI: C0342853
Disease: Sialuria
Sialuria 		0.760 GeneticVariation disease CLINVAR Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele. 27829678 2017
CUI: C0342853
Disease: Sialuria
Sialuria 		0.760 CausalMutation disease CLINVAR GNE myopathy in Roma patients homozygous for the p.I618T founder mutation. 26231298 2015
CUI: C0342853
Disease: Sialuria
Sialuria 		0.760 GeneticVariation disease CLINVAR GNE myopathy: current update and future therapy. 25002140 2015
CUI: C0342853
Disease: Sialuria
Sialuria 		0.760 GeneticVariation disease CLINVAR Mutation update for GNE gene variants associated with GNE myopathy. 24796702 2014
CUI: C0342853
Disease: Sialuria
Sialuria 		0.760 CausalMutation disease CLINVAR Non-specific accumulation of glycosphingolipids in GNE myopathy. 24136589 2014
CUI: C0342853
Disease: Sialuria
Sialuria 		0.760 CausalMutation disease CLINVAR Mutation update for GNE gene variants associated with GNE myopathy. 24796702 2014
CUI: C0342853
Disease: Sialuria
Sialuria 		0.760 GeneticVariation disease CLINVAR GNE myopathy in India. 24005727 2014
CUI: C0342853
Disease: Sialuria
Sialuria 		0.760 CausalMutation disease CLINVAR Two recurrent mutations are associated with GNE myopathy in the North of Britain. 24695763 2014
CUI: C0342853
Disease: Sialuria
Sialuria 		0.760 GeneticVariation disease CLINVAR Atypical presentation of GNE myopathy with asymmetric hand weakness. 25182749 2014
CUI: C0342853
Disease: Sialuria
Sialuria 		0.760 GeneticVariation disease CLINVAR Clinical characteristics and molecular genetic analysis of Korean patients with GNE myopathy. 23549799 2013
CUI: C0342853
Disease: Sialuria
Sialuria 		0.760 GeneticVariation disease CLINVAR Novel GNE mutations in autosomal recessive hereditary inclusion body myopathy patients. 23437777 2013
CUI: C0342853
Disease: Sialuria
Sialuria 		0.760 CausalMutation disease CLINVAR Prevalence of GNE p.M712T and hereditary inclusion body myopathy (HIBM) in Sangesar population of Northern Iran. 23278550 2013
CUI: C0342853
Disease: Sialuria
Sialuria 		0.760 CausalMutation disease CLINVAR Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations. 22507750 2012
CUI: C0342853
Disease: Sialuria
Sialuria 		0.760 CausalMutation disease CLINVAR Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles. 21307865 2011
CUI: C0342853
Disease: Sialuria
Sialuria 		0.760 GeneticVariation disease CLINVAR Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE. 21708040 2011
CUI: C0342853
Disease: Sialuria
Sialuria 		0.760 CausalMutation disease CLINVAR Distal myopathy with rimmed vacuoles: clinical and muscle morphological characteristics and spectrum of GNE gene mutations in 53 Chinese patients. 22196754 2011
CUI: C0342853
Disease: Sialuria
Sialuria 		0.760 CausalMutation disease CLINVAR Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE. 21708040 2011
CUI: C0342853
Disease: Sialuria
Sialuria 		0.760 GeneticVariation disease BEFREE GNE mutations can result in two human disorders, hereditary inclusion body myopathy (HIBM) or sialuria. 19917666 2010
CUI: C0342853
Disease: Sialuria
Sialuria 		0.760 GeneticVariation disease CLINVAR Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathy. 20175955 2010
CUI: C0342853
Disease: Sialuria
Sialuria 		0.760 CausalMutation disease CLINVAR Novel GNE mutations in hereditary inclusion body myopathy patients of non-Middle Eastern descent. 20059379 2010
CUI: C0342853
Disease: Sialuria
Sialuria 		0.760 CausalMutation disease CLINVAR The spectrum of GNE mutations: allelic heterogeneity for a common phenotype. 20300792 2010
CUI: C0342853
Disease: Sialuria
Sialuria 		0.760 GeneticVariation disease BEFREE Sialuria is a dominant disorder caused by missense mutations in the allosteric site of GNE, coding for the rate-limiting enzyme of sialic acid biosynthesis, UDP-GlcNAc 2-epimerase/ManNAc kinase. 18653764 2008
CUI: C0342853
Disease: Sialuria
Sialuria 		0.760 GeneticVariation disease BEFREE Expression of the sialuria-mutated GNE in CHO-cells leads to increased sialylation of recombinant expressed erythropoietin (EPO). 17706199 2007