Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908623
rs121908623
CLTA ; GNE
A 0.810 CausalMutation CLINVAR

dbSNP: rs121908622
rs121908622
CLTA ; GNE
T 0.800 CausalMutation CLINVAR

dbSNP: rs121908621
rs121908621
CLTA ; GNE
A 0.700 CausalMutation CLINVAR

dbSNP: rs121908627
rs121908627
CLTA ; GNE
T 0.700 CausalMutation CLINVAR The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. 11528398

2001
dbSNP: rs121908627
rs121908627
CLTA ; GNE
T 0.700 CausalMutation CLINVAR Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand. 16810679

2006
dbSNP: rs121908627
rs121908627
CLTA ; GNE
T 0.700 CausalMutation CLINVAR Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE. 21708040

2011
dbSNP: rs199877522
rs199877522
CLTA ; GNE
A 0.700 CausalMutation CLINVAR Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy. 12473753

2002
dbSNP: rs199877522
rs199877522
CLTA ; GNE
A 0.700 CausalMutation CLINVAR Two recurrent mutations are associated with GNE myopathy in the North of Britain. 24695763

2014
dbSNP: rs199877522
rs199877522
CLTA ; GNE
A 0.700 CausalMutation CLINVAR Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on hereditary inclusion body myopathy. 16503651

2006
dbSNP: rs199877522
rs199877522
CLTA ; GNE
A 0.700 CausalMutation CLINVAR Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles. 14707127

2004
dbSNP: rs199877522
rs199877522
CLTA ; GNE
A 0.700 CausalMutation CLINVAR Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps. 12497639

2003
dbSNP: rs200763627
rs200763627
CLTA ; GNE ; LOC102724322
T 0.700 CausalMutation CLINVAR

dbSNP: rs28937594
rs28937594
CLTA ; GNE
G 0.700 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 0.700 CausalMutation CLINVAR The spectrum of GNE mutations: allelic heterogeneity for a common phenotype. 20300792

2010
dbSNP: rs28937594
rs28937594
CLTA ; GNE
G 0.700 CausalMutation CLINVAR The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. 11528398

2001
dbSNP: rs28937594
rs28937594
CLTA ; GNE
G 0.700 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 0.700 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: rs62541771
rs62541771
CLTA ; GNE
A 0.700 CausalMutation CLINVAR Two recurrent mutations are associated with GNE myopathy in the North of Britain. 24695763

2014
dbSNP: rs62541771
rs62541771
CLTA ; GNE
A 0.700 CausalMutation CLINVAR Mutation update for GNE gene variants associated with GNE myopathy. 24796702

2014
dbSNP: rs62541771
rs62541771
CLTA ; GNE
A 0.700 CausalMutation CLINVAR Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles. 14707127

2004
dbSNP: rs62541771
rs62541771
CLTA ; GNE
A 0.700 CausalMutation CLINVAR Distal myopathy with rimmed vacuoles: clinical and muscle morphological characteristics and spectrum of GNE gene mutations in 53 Chinese patients. 22196754

2011
dbSNP: rs757523840
rs757523840
CLTA ; GNE
C 0.700 CausalMutation CLINVAR Novel GNE mutations in hereditary inclusion body myopathy patients of non-Middle Eastern descent. 20059379

2010
dbSNP: rs773729410
rs773729410
CLTA ; GNE
A 0.700 CausalMutation CLINVAR Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles. 21307865

2011
dbSNP: rs773729410
rs773729410
CLTA ; GNE
A 0.700 CausalMutation CLINVAR GNE myopathy in Roma patients homozygous for the p.I618T founder mutation. 26231298

2015
dbSNP: rs773729410
rs773729410
CLTA ; GNE
A 0.700 CausalMutation 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