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 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 GeneticVariation disease BEFREE In addition, the literature on DMRV was reviewed to provide an overview of the disease and broaden the mutational spectrum of the GNE gene in China. 30112071 2018
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 GeneticVariation disease BEFREE Individuals with mutations in presenilin or amyloid precursor protein (APP) gene develop AD while mutations in GNE (UDP <i>N</i>-acetylglucosamine 2 epimerase/<i>N</i>-acetyl Mannosamine kinase), key sialic acid biosynthesis enzyme, cause GNEM. 30374284 2018
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 GeneticVariation disease BEFREE This finding broadens the GNE gene mutation spectrum and extends the GNE myopathy phenotype spectrum. 30160005 2018
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 GeneticVariation disease CLINVAR Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele. 27829678 2017
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 GeneticVariation disease BEFREE Further, GNE carrying the M743T mutation, the most frequent mutation in GNE myopathy, has a 10-fold lower binding affinity to α-actinin 2 than intact GNE. 27023225 2017
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 GeneticVariation disease CLINVAR Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy. 28717665 2017
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 GeneticVariation disease BEFREE These results show that serum and muscle free SA is severely reduced in GNEM, which is consistent with the biochemical defect in SA synthesis associated with GNE mutations. 28267778 2017
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 CLINVAR Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy. 28641925 2017
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 CLINVAR Muscle biopsy with dystrophic pattern and rimmed vacuoles: GNE myopathy in a Brazilian patient. 28099567 2017
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 GeneticVariation disease BEFREE Genetic defects of the GNE gene which encodes a critical bifunctional enzyme for sialic acid biosynthesis, lead to GNE myopathy, a disease manifesting with progressive muscle atrophy and weakness. 28505249 2017
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 GeneticVariation disease CLINVAR Genetics of GNE myopathy in the non-Jewish Persian population. 25966635 2016
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 Biomarker disease GENOMICS_ENGLAND Genetic defects in the hexosamine and sialic acid biosynthesis pathway. 26721333 2016
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 This study confirms that c.2228T>C (p.M743T) is the most prevalent disease-causing variant in the non-Jewish Persian population, but other GNE variants can cause GNE myopathy in this population. 25966635 2016
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 CausalMutation disease CLINVAR Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy. 25986339 2015
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 GeneticVariation disease CLINVAR GNE myopathy: current update and future therapy. 25002140 2015
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 CausalMutation disease CLINVAR Novel Mutation of the GNE Gene Presenting Atypical Mild Clinical Feature: A Korean Case Report. 26161358 2015
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 GeneticVariation disease CLINVAR Activation of the Unfolded Protein Response in Sporadic Inclusion-Body Myositis but Not in Hereditary GNE Inclusion-Body Myopathy. 25978849 2015
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 GeneticVariation disease CLINVAR Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy. 27858732 2015
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 CausalMutation disease CLINVAR GNE myopathy in Roma patients homozygous for the p.I618T founder mutation. 26231298 2015
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 GeneticVariation disease BEFREE Novel GNE mutations found in this study expanded the mutational spectrum associated with GNE myopathy. 25986339 2015