Gene: GNE ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516275
rs1057516275
CLTA ; GNE
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516340
rs1057516340
CLTA ; GNE
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516364
rs1057516364
CLTA ; GNE
G 0.700 GeneticVariation CLINVAR Mutation update for GNE gene variants associated with GNE myopathy. 24796702

2014
dbSNP: rs1057516364
rs1057516364
CLTA ; GNE
G 0.700 GeneticVariation CLINVAR Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant. 15136692

2004
dbSNP: rs1057516364
rs1057516364
CLTA ; GNE
G 0.700 GeneticVariation CLINVAR Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy). 24027297

2014
dbSNP: rs1057516364
rs1057516364
CLTA ; GNE
G 0.700 GeneticVariation CLINVAR Novel GNE compound heterozygous mutations in a GNE myopathy patient. 23558691

2013
dbSNP: rs1057516364
rs1057516364
CLTA ; GNE
G 0.700 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: rs1057516374
rs1057516374
CLTA ; GNE
A 0.700 GeneticVariation CLINVAR Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy. 25986339

2015
dbSNP: rs1057516597
rs1057516597
CLTA ; GNE
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516657
rs1057516657
CLTA ; GNE
G 0.700 GeneticVariation CLINVAR A family with distal myopathy with rimmed vacuoles associated with thrombocytopenia. 24737350

2014
dbSNP: rs1057516705
rs1057516705
CLTA ; GNE
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516746
rs1057516746
CLTA ; GNE
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516798
rs1057516798
CLTA ; GNE
0.720 GeneticVariation BEFREE The allelic frequency of c.1523T>C (p.L508S) was 25% in the Chinese patients with DMRV. 21307865

2011
dbSNP: rs1057516798
rs1057516798
CLTA ; GNE
G 0.720 GeneticVariation 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: rs1057516798
rs1057516798
CLTA ; GNE
G 0.720 GeneticVariation CLINVAR Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy. 25986339

2015
dbSNP: rs1057516798
rs1057516798
CLTA ; GNE
0.720 GeneticVariation BEFREE 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: rs1057516798
rs1057516798
CLTA ; GNE
G 0.720 GeneticVariation CLINVAR The allelic frequency of c.1523T>C (p.L508S) was 25% in the Chinese patients with DMRV. 21307865

2011
dbSNP: rs1057516798
rs1057516798
CLTA ; GNE
G 0.720 GeneticVariation CLINVAR Mutation update for GNE gene variants associated with GNE myopathy. 24796702

2014
dbSNP: rs1057516906
rs1057516906
CLTA ; GNE
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516915
rs1057516915
CLTA ; GNE
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516965
rs1057516965
CLTA ; GNE
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517094
rs1057517094
CLTA ; GNE
CT 0.700 GeneticVariation CLINVAR Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on hereditary inclusion body myopathy. 16503651

2006
dbSNP: rs1057517157
rs1057517157
CLTA ; GNE
C 0.700 GeneticVariation CLINVAR Domain-specific characteristics of the bifunctional key enzyme of sialic acid biosynthesis, UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase. 15330759

2004
dbSNP: rs1191857860
rs1191857860
CLTA ; GNE
0.700 GeneticVariation UNIPROT

dbSNP: rs1209266607
rs1209266607
CLTA ; GNE
G 0.700 CausalMutation CLINVAR Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy). 24027297

2014