Gene: CLTA ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28937594
rs28937594
CLTA ; GNE
G 0.900 CausalMutation CLINVAR Prevalence of GNE p.M712T and hereditary inclusion body myopathy (HIBM) in Sangesar population of Northern Iran. 23278550

2013
dbSNP: rs28937594
rs28937594
CLTA ; GNE
G 0.900 CausalMutation CLINVAR The spectrum of GNE mutations: allelic heterogeneity for a common phenotype. 20300792

2010
dbSNP: rs28937594
rs28937594
CLTA ; GNE
G 0.900 CausalMutation CLINVAR No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation. 15670773

2005
dbSNP: rs28937594
rs28937594
CLTA ; GNE
G 0.900 CausalMutation CLINVAR 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
dbSNP: rs28937594
rs28937594
CLTA ; GNE
G 0.900 CausalMutation CLINVAR The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. 11528398

2001
dbSNP: rs121908632
rs121908632
CLTA ; GNE
G 0.840 CausalMutation CLINVAR

dbSNP: rs139425890
rs139425890
CLTA ; GNE
A 0.820 CausalMutation CLINVAR Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy. 25986339

2015
dbSNP: rs139425890
rs139425890
CLTA ; GNE
A 0.820 CausalMutation CLINVAR This was the first case report in Korea of the clinicopathological characteristics of GNE myopathy with GNE (c.1714G>C/c.527A>T compound heterozygous) mutation. 26161358

2015
dbSNP: rs139425890
rs139425890
CLTA ; GNE
A 0.820 CausalMutation CLINVAR Nationwide patient registry for GNE myopathy in Japan. 25303967

2014
dbSNP: rs139425890
rs139425890
CLTA ; GNE
A 0.820 CausalMutation CLINVAR Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy). 24027297

2014
dbSNP: rs139425890
rs139425890
CLTA ; GNE
A 0.820 CausalMutation CLINVAR Eighteen mutations in GNE gene were identified. c.317T>C (p.I106T) was a novel GNE gene mutation. c.1892C>T (p.A631V), c.527A>T (p.D176V) and c.1523T>C (p.L508S) were the common GNE mutations in Chinese DMRV patients. 22196754

2011
dbSNP: rs139425890
rs139425890
CLTA ; GNE
A 0.820 CausalMutation CLINVAR Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria. 19917666

2010
dbSNP: rs139425890
rs139425890
CLTA ; GNE
A 0.820 GeneticVariation CLINVAR Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria. 19917666

2010
dbSNP: rs139425890
rs139425890
CLTA ; GNE
A 0.820 CausalMutation CLINVAR Hereditary inclusion body myopathy with a novel mutation in the GNE gene associated with proximal leg weakness and necrotizing myopathy. 17718674

2007
dbSNP: rs139425890
rs139425890
CLTA ; GNE
A 0.820 CausalMutation CLINVAR We therefore generated a transgenic mouse that expressed the human GNE D176V mutation, which is one of the most prevalent mutations among Japanese DMRV patients, and crossed this with Gne(+/-) mice to obtain Gne(-/-)hGNED176V-Tg. 17704511

2007
dbSNP: rs139425890
rs139425890
CLTA ; GNE
A 0.820 CausalMutation CLINVAR 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. 14733963

2004
dbSNP: rs139425890
rs139425890
CLTA ; GNE
A 0.820 GeneticVariation CLINVAR Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles. 14707127

2004
dbSNP: rs139425890
rs139425890
CLTA ; GNE
A 0.820 CausalMutation CLINVAR Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant. 15136692

2004
dbSNP: rs139425890
rs139425890
CLTA ; GNE
A 0.820 CausalMutation CLINVAR Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy. 12473753

2002
dbSNP: rs139425890
rs139425890
CLTA ; GNE
A 0.820 GeneticVariation CLINVAR Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy. 12473753

2002
dbSNP: rs121908627
rs121908627
CLTA ; GNE
T 0.810 GeneticVariation CLINVAR Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele. 27829678

2017
dbSNP: rs121908627
rs121908627
CLTA ; GNE
T 0.810 GeneticVariation CLINVAR We report two siblings of Indian descent with characteristic features of GNE myopathy, including progressive skeletal muscle weakness initially involving the anterior tibialis, and rimmed vacuoles on muscle biopsy, in which a heterozygous mutation, p.Val727Met, was identified in both affected siblings, but no other deleterious variants in either coding region or exon-intron boundaries of the gene. 28717665

2017
dbSNP: rs769215411
rs769215411
CLTA ; GNE
A 0.810 GeneticVariation CLINVAR Muscle biopsy with dystrophic pattern and rimmed vacuoles: GNE myopathy in a Brazilian patient. 28099567

2017
dbSNP: rs121908627
rs121908627
CLTA ; GNE
T 0.810 GeneticVariation CLINVAR GNE myopathy: current update and future therapy. 25002140

2015
dbSNP: rs748949603
rs748949603
CLTA ; GNE
G 0.810 CausalMutation CLINVAR GNE myopathy in Roma patients homozygous for the p.I618T founder mutation. 26231298

2015