5.1.3.14 Amyloidosis http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16121806&form=6&db=m Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus. causal interaction,unassigned 1,0 5.1.3.14 Anemia http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16121806&form=6&db=m Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus. causal interaction,unassigned 1,0 5.1.3.14 Bardet-Biedl Syndrome http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16121806&form=6&db=m Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus. causal interaction,unassigned 1,0 5.1.3.14 Breast Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16121806&form=6&db=m Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus. causal interaction,unassigned 1,0 5.1.3.14 Carcinoma http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16121806&form=6&db=m Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus. causal interaction,unassigned 1,0 5.1.3.14 Carcinoma http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22049060&form=6&db=m Loss of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) induces apoptotic processes in pancreatic carcinoma cells. causal interaction,diagnostic usage,ongoing research,unassigned 2,3,4,0 5.1.3.14 Carcinoma, Hepatocellular http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=7414604&form=6&db=m UDP-N-acetylglucosamine 2'-epimerase of rat hepatoma and its comparison with the enzyme of rat liver. ongoing research,unassigned 4,0 5.1.3.14 Distal Myopathies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11916006&form=6&db=m Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE). causal interaction,unassigned 3,0 5.1.3.14 Distal Myopathies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=12177386&form=6&db=m Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene. causal interaction,unassigned 3,0 5.1.3.14 Distal Myopathies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=14678807&form=6&db=m A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation. causal interaction,unassigned 1,0 5.1.3.14 Distal Myopathies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=14707127&form=6&db=m Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles. ongoing research,unassigned 1,0 5.1.3.14 Distal Myopathies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=14733963&form=6&db=m A Japanese patient with distal myopathy with rimmed vacuoles: missense mutations in the epimerase domain of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene accompanied by hyposialylation of skeletal muscle glycoproteins. causal interaction,unassigned 3,0 5.1.3.14 Distal Myopathies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15136692&form=6&db=m Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant. unassigned - 5.1.3.14 Distal Myopathies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15834044&form=6&db=m Phenotypic variability in a Chinese family with rimmed vacuolar distal myopathy. causal interaction,unassigned 4,0 5.1.3.14 Distal Myopathies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17098358&form=6&db=m Heterozygous mutations affecting the epimerase domain of the GNE gene causing distal myopathy with rimmed vacuoles in a Taiwanese family. therapeutic application,unassigned 1,0 5.1.3.14 Distal Myopathies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17164266&form=6&db=m A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. causal interaction,unassigned 1,0 5.1.3.14 Distal Myopathies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17643062&form=6&db=m Expression of autophagy-associated genes in skeletal muscle: an experimental model of chloroquine-induced myopathy. causal interaction,unassigned 1,0 5.1.3.14 Distal Myopathies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17704511&form=6&db=m A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. causal interaction,unassigned 2,0 5.1.3.14 Distal Myopathies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18646567&form=6&db=m Perspectives on distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy: contributions from an animal model. Lack of sialic acid, a central determinant in sugar chains, causes myopathy? unassigned - 5.1.3.14 Distal Myopathies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19845164&form=6&db=m UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase in nuclei and rimmed vacuoles of muscle fibers in DMRV (distal myopathy with rimmed vacuoles). causal interaction,therapeutic application,unassigned 4,1,0 5.1.3.14 Distal Myopathies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20030229&form=6&db=m [Development of therapy for distal myopathy with rimmed vacuoles] causal interaction,unassigned 2,0 5.1.3.14 Distal Myopathies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20644153&form=6&db=m Analysis of NCAM helps identify unusual phenotypes of hereditary inclusion-body myopathy. unassigned - 5.1.3.14 Distal Myopathies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=21307865&form=6&db=m Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles. causal interaction,unassigned 1,0 5.1.3.14 Distal Myopathies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22855677&form=6&db=m Novel Mutations of the GNE Gene in Distal Myopathy with Rimmed Vacuoles Presenting with Very Slow Progression. causal interaction,unassigned 2,0 5.1.3.14 Distal Myopathies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24285971&form=6&db=m A Case of GNE Myopathy Presenting a Rapid Deterioration during Pregnancy. unassigned - 5.1.3.14 Distal Myopathies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24707269&form=6&db=m A Novel Mutation of the GNE Gene in Distal Myopathy with Rimmed Vacuoles: A Case with Inflammation. causal interaction,unassigned 3,0 5.1.3.14 Distal Myopathies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26053703&form=6&db=m Muscle biopsy and UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene mutation analysis in two Chinese patients with distal myopathy with rimmed vacuoles. ongoing research,therapeutic application,unassigned 1,1,0 5.1.3.14 Distal Myopathies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27829678&form=6&db=m Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele. causal interaction,unassigned 2,0 5.1.3.14 Distal Myopathies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30390020&form=6&db=m GNE myopathy in Chinese population: hotspot and novel mutations. causal interaction,unassigned 1,0 5.1.3.14 Dwarfism http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16121806&form=6&db=m Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus. causal interaction,unassigned 1,0 5.1.3.14 Genetic Diseases, Inborn http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=28895049&form=6&db=m Mutation in GNE Downregulates Peroxiredoxin IV Altering ER Redox Homeostasis. causal interaction,unassigned 1,0 5.1.3.14 Hematuria http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17549251&form=6&db=m Sizing up sialic acid in glomerular disease. causal interaction,unassigned 2,0 5.1.3.14 Hyperlipoproteinemia Type I http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16121806&form=6&db=m Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus. causal interaction,unassigned 1,0 5.1.3.14 Hypoalphalipoproteinemias http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16121806&form=6&db=m Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus. causal interaction,unassigned 1,0 5.1.3.14 Infections http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26926339&form=6&db=m Comparative Genomic Analysis of Mannheimia haemolytica from Bovine Sources. unassigned - 5.1.3.14 Intellectual Disability http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16121806&form=6&db=m Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus. causal interaction,unassigned 1,0 5.1.3.14 Leukemia http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17118363&form=6&db=m The collapsin response mediator protein 1 (CRMP-1) and the promyelocytic leukemia zinc finger protein (PLZF) bind to UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), the key enzyme of sialic acid biosynthesis. unassigned - 5.1.3.14 Leukemia, Myeloid http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11513859&form=6&db=m Efficient biochemical engineering of cellular sialic acids using an unphysiological sialic acid precursor in cells lacking UDP-N-acetylglucosamine 2-epimerase. unassigned - 5.1.3.14 lipoprotein lipase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16121806&form=6&db=m Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus. causal interaction,unassigned 1,0 5.1.3.14 Liver Neoplasms, Experimental http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=12927803&form=6&db=m Epigenetically mediated loss of UDP-GlcNAc 2-epimerase/ManNAc kinase expression in hyposialylated cell lines. unassigned - 5.1.3.14 Lymphoma http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11308027&form=6&db=m Biosynthesis of N-acetylneuraminic acid in cells lacking UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase. diagnostic usage,ongoing research,unassigned 3,3,0 5.1.3.14 Lymphoma, B-Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11513859&form=6&db=m Efficient biochemical engineering of cellular sialic acids using an unphysiological sialic acid precursor in cells lacking UDP-N-acetylglucosamine 2-epimerase. unassigned - 5.1.3.14 Malaria http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16121806&form=6&db=m Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus. causal interaction,unassigned 1,0 5.1.3.14 Migraine Disorders http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16121806&form=6&db=m Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus. causal interaction,unassigned 1,0 5.1.3.14 Muscle Weakness http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15670773&form=6&db=m No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation. causal interaction,unassigned 3,0 5.1.3.14 Muscle Weakness http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=28895049&form=6&db=m Mutation in GNE Downregulates Peroxiredoxin IV Altering ER Redox Homeostasis. causal interaction,unassigned 1,0 5.1.3.14 Muscle Weakness http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31691999&form=6&db=m Quantitation of cytidine-5'-monophospho-N-acetylneuraminic acid in human leukocytes using LC-MS/MS: method development and validation. causal interaction,unassigned 1,0 5.1.3.14 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11528398&form=6&db=m The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. causal interaction,unassigned 2,0 5.1.3.14 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11916006&form=6&db=m Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE). causal interaction,unassigned 3,0 5.1.3.14 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=12177386&form=6&db=m Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene. causal interaction,unassigned 3,0 5.1.3.14 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=12325084&form=6&db=m A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees. causal interaction,ongoing research,therapeutic application,unassigned 1,1,1,0 5.1.3.14 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=12811782&form=6&db=m Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy. unassigned - 5.1.3.14 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=14561743&form=6&db=m Lec3 Chinese hamster ovary mutants lack UDP-N-acetylglucosamine 2-epimerase activity because of mutations in the epimerase domain of the Gne gene. therapeutic application,unassigned 1,0 5.1.3.14 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=14678807&form=6&db=m A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation. causal interaction,unassigned 1,0 5.1.3.14 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=14733963&form=6&db=m A Japanese patient with distal myopathy with rimmed vacuoles: missense mutations in the epimerase domain of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene accompanied by hyposialylation of skeletal muscle glycoproteins. causal interaction,unassigned 3,0 5.1.3.14 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=14972325&form=6&db=m Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations. causal interaction,unassigned 3,0 5.1.3.14 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15147877&form=6&db=m 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. causal interaction,unassigned 4,0 5.1.3.14 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15670773&form=6&db=m No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation. causal interaction,unassigned 3,0 5.1.3.14 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15987957&form=6&db=m Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy. causal interaction,ongoing research,unassigned 1,3,0 5.1.3.14 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16121806&form=6&db=m Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus. causal interaction,unassigned 1,0 5.1.3.14 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16503651&form=6&db=m Influence of UDP-GlcNAc 2-Epimerase/ManNAc Kinase Mutant Proteins on Hereditary Inclusion Body Myopathy. causal interaction,ongoing research,unassigned 3,2,0 5.1.3.14 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17164266&form=6&db=m A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. causal interaction,unassigned 1,0 5.1.3.14 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17673919&form=6&db=m Characterization of hereditary inclusion body myopathy myoblasts: possible primary impairment of apoptotic events. causal interaction,unassigned 4,0 5.1.3.14 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17698786&form=6&db=m GNE protein expression and subcellular distribution are unaltered in HIBM. causal interaction,unassigned 1,0 5.1.3.14 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17704511&form=6&db=m A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. causal interaction,unassigned 2,0 5.1.3.14 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18182043&form=6&db=m Hyposialylation of neprilysin possibly affects its expression and enzymatic activity in hereditary inclusion-body myopathy muscle. diagnostic usage,unassigned 1,0 5.1.3.14 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18555875&form=6&db=m [Distal myopathy due to mutations of GNE gene: clinical spectrum and diagnosis] therapeutic application,unassigned 1,0 5.1.3.14 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18646567&form=6&db=m Perspectives on distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy: contributions from an animal model. Lack of sialic acid, a central determinant in sugar chains, causes myopathy? unassigned - 5.1.3.14 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19845164&form=6&db=m UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase in nuclei and rimmed vacuoles of muscle fibers in DMRV (distal myopathy with rimmed vacuoles). causal interaction,therapeutic application,unassigned 4,1,0 5.1.3.14 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20030229&form=6&db=m [Development of therapy for distal myopathy with rimmed vacuoles] causal interaction,unassigned 2,0 5.1.3.14 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20346669&form=6&db=m Novel missense mutation p.A310P in the GNE gene in autosomal-recessive hereditary inclusion-body myopathy/distal myopathy with rimmed vacuoles in an Italian family. causal interaction,unassigned 3,0 5.1.3.14 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20644153&form=6&db=m Analysis of NCAM helps identify unusual phenotypes of hereditary inclusion-body myopathy. unassigned - 5.1.3.14 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=21131200&form=6&db=m Novel GNE mutations in two phenotypically distinct HIBM2 patients. causal interaction,unassigned 3,0 5.1.3.14 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=21307865&form=6&db=m Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles. causal interaction,unassigned 1,0 5.1.3.14 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22106710&form=6&db=m Hereditary inclusion-body myopathy with sparing of the quadriceps: the many tiles of an incomplete puzzle. unassigned - 5.1.3.14 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22231866&form=6&db=m Muscle imaging findings in GNE myopathy. causal interaction,unassigned 2,0 5.1.3.14 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22507750&form=6&db=m 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. causal interaction,unassigned 2,0 5.1.3.14 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23472144&form=6&db=m Unfolded Protein Response and Activated Degradative Pathways Regulation in GNE Myopathy. causal interaction,unassigned 4,0 5.1.3.14 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23558691&form=6&db=m Novel GNE compound heterozygous mutations in a GNE myopathy patient. therapeutic application,unassigned 1,0 5.1.3.14 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24285971&form=6&db=m A Case of GNE Myopathy Presenting a Rapid Deterioration during Pregnancy. unassigned - 5.1.3.14 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24707269&form=6&db=m A Novel Mutation of the GNE Gene in Distal Myopathy with Rimmed Vacuoles: A Case with Inflammation. causal interaction,unassigned 3,0 5.1.3.14 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25002140&form=6&db=m GNE myopathy: current update and future therapy. unassigned - 5.1.3.14 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25257349&form=6&db=m GNE myopathy associated with congenital thrombocytopenia: a report of two siblings. causal interaction,unassigned 3,0 5.1.3.14 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25976366&form=6&db=m GNE Myopathy and Cell Apoptosis: A Comparative Mutation Analysis. causal interaction,unassigned 3,0 5.1.3.14 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26546927&form=6&db=m [GNE myopathy]. causal interaction,unassigned 1,0 5.1.3.14 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27023225&form=6&db=m The Interaction of UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase (GNE) and Alpha-Actinin 2 Is Altered in GNE Myopathy M743T Mutant. therapeutic application,unassigned 1,0 5.1.3.14 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27829678&form=6&db=m Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele. causal interaction,unassigned 2,0 5.1.3.14 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=28895049&form=6&db=m Mutation in GNE Downregulates Peroxiredoxin IV Altering ER Redox Homeostasis. causal interaction,unassigned 1,0 5.1.3.14 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30390020&form=6&db=m GNE myopathy in Chinese population: hotspot and novel mutations. causal interaction,unassigned 1,0 5.1.3.14 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31691999&form=6&db=m Quantitation of cytidine-5'-monophospho-N-acetylneuraminic acid in human leukocytes using LC-MS/MS: method development and validation. causal interaction,unassigned 1,0 5.1.3.14 Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17448495&form=6&db=m Evidence for dynamic interplay of different oligomeric states of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase by biophysical methods. unassigned - 5.1.3.14 Osteoporosis http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16121806&form=6&db=m Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus. causal interaction,unassigned 1,0 5.1.3.14 Proteinuria http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17549251&form=6&db=m Sizing up sialic acid in glomerular disease. causal interaction,unassigned 2,0 5.1.3.14 Rickets http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16121806&form=6&db=m Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus. causal interaction,unassigned 1,0 5.1.3.14 Sarcoma, Yoshida http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=7414604&form=6&db=m UDP-N-acetylglucosamine 2'-epimerase of rat hepatoma and its comparison with the enzyme of rat liver. ongoing research,unassigned 4,0 5.1.3.14 Sialic Acid Storage Disease http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=444571&form=6&db=m 2-Acetamidoglucal, a new metabolite isolated from the urine of a patient with sialuria. unassigned - 5.1.3.14 Sialic Acid Storage Disease http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=2019577&form=6&db=m Sialic acid metabolism in sialuria fibroblasts. causal interaction,unassigned 1,0 5.1.3.14 Sialic Acid Storage Disease http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=2808337&form=6&db=m Identification of the metabolic defect in sialuria. unassigned - 5.1.3.14 Sialic Acid Storage Disease http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10330343&form=6&db=m Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme. causal interaction,diagnostic usage,ongoing research,unassigned 1,1,4,0 5.1.3.14 Sialic Acid Storage Disease http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10356312&form=6&db=m Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics. unassigned - 5.1.3.14 Sialic Acid Storage Disease http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=12450772&form=6&db=m Magnesium may help patients with recessive hereditary inclusion body myopathy, a pathological review. unassigned - 5.1.3.14 Sialic Acid Storage Disease http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=14561743&form=6&db=m Lec3 Chinese hamster ovary mutants lack UDP-N-acetylglucosamine 2-epimerase activity because of mutations in the epimerase domain of the Gne gene. therapeutic application,unassigned 1,0 5.1.3.14 Sialic Acid Storage Disease http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16121806&form=6&db=m Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus. causal interaction,unassigned 1,0 5.1.3.14 Sialic Acid Storage Disease http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17706199&form=6&db=m Enhanced sialylation of EPO by overexpression of UDP-GlcNAc 2-epimerase/ManAc kinase containing a sialuria mutation in CHO cells. causal interaction,unassigned 1,0 5.1.3.14 Sialic Acid Storage Disease http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18653764&form=6&db=m Allele-specific silencing of the dominant disease allele in sialuria by RNA interference. unassigned - 5.1.3.14 Sialic Acid Storage Disease http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19917666&form=6&db=m Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria. ongoing research,therapeutic application,unassigned 2,4,0 5.1.3.14 Sialic Acid Storage Disease http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27966821&form=6&db=m Increased Polysialylation of the Neural Cell Adhesion Molecule in a Transgenic Mouse Model of Sialuria. unassigned - 5.1.3.14 Sialic Acid Storage Disease http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=29923088&form=6&db=m Sialuria: Ninth Patient Described Has a Novel Mutation in GNE. unassigned - 5.1.3.14 Sialic Acid Storage Disease http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32053088&form=6&db=m Sialuria-Related Intellectual Disability in Children and Adolescent of Pakistan: Tenth Patient Described has a Novel Mutation in GNE gene. causal interaction,unassigned 1,0 5.1.3.14 Thrombocytopenia http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25257349&form=6&db=m GNE myopathy associated with congenital thrombocytopenia: a report of two siblings. causal interaction,unassigned 3,0 5.1.3.14 Thrombocytopenia http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33198675&form=6&db=m Congenital thrombocytopenia associated with GNE mutations in twin sisters: a case report and literature review. causal interaction,unassigned 3,0 5.1.3.14 von Hippel-Lindau Disease http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16121806&form=6&db=m Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus. causal interaction,unassigned 1,0 5.1.3.14 Whooping Cough http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11526328&form=6&db=m Overexpression, purification, crystallization and data collection on the Bordetella pertussis wlbD gene product, a putative UDP-GlcNAc 2'-epimerase. ongoing research,unassigned 2,0 5.1.3.14 Zika Virus Infection http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30898036&form=6&db=m Cell surface ?2,3-linked sialic acid facilitates Zika virus internalization. ongoing research,therapeutic application,unassigned 4,1,0