Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908623
rs121908623
CLTA ; GNE
0.810 GeneticVariation BEFREE Here we established a transgenic mouse line that expresses GNE containing the sialuria mutation R263L, in order to investigate the influence of an altered sialic acid concentration on the organism. 27966821

2017
dbSNP: rs121908623
rs121908623
CLTA ; GNE
0.810 GeneticVariation UNIPROT Dominant inheritance of sialuria, an inborn error of feedback inhibition. 11326336

2001
dbSNP: rs121908623
rs121908623
CLTA ; GNE
0.810 GeneticVariation UNIPROT Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics. 10356312

1999
dbSNP: rs121908623
rs121908623
CLTA ; GNE
0.810 GeneticVariation UNIPROT Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme. 10330343

1999
dbSNP: rs121908623
rs121908623
CLTA ; GNE
0.810 GeneticVariation UNIPROT Identification of the metabolic defect in sialuria. 2808337

1989
dbSNP: rs121908623
rs121908623
CLTA ; GNE
A 0.810 CausalMutation CLINVAR

dbSNP: rs121908622
rs121908622
CLTA ; GNE
0.800 GeneticVariation UNIPROT Dominant inheritance of sialuria, an inborn error of feedback inhibition. 11326336

2001
dbSNP: rs121908622
rs121908622
CLTA ; GNE
0.800 GeneticVariation UNIPROT Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics. 10356312

1999
dbSNP: rs121908622
rs121908622
CLTA ; GNE
0.800 GeneticVariation UNIPROT Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme. 10330343

1999
dbSNP: rs121908622
rs121908622
CLTA ; GNE
0.800 GeneticVariation UNIPROT Identification of the metabolic defect in sialuria. 2808337

1989
dbSNP: rs121908622
rs121908622
CLTA ; GNE
T 0.800 CausalMutation CLINVAR

dbSNP: rs121908627
rs121908627
CLTA ; GNE
T 0.700 GeneticVariation CLINVAR Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy. 28717665

2017
dbSNP: rs121908627
rs121908627
CLTA ; GNE
T 0.700 GeneticVariation CLINVAR Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele. 27829678

2017
dbSNP: rs121908627
rs121908627
CLTA ; GNE
T 0.700 GeneticVariation CLINVAR GNE myopathy: current update and future therapy. 25002140

2015
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: rs121908627
rs121908627
CLTA ; GNE
T 0.700 GeneticVariation CLINVAR Mutation update for GNE gene variants associated with GNE myopathy. 24796702

2014
dbSNP: rs121908627
rs121908627
CLTA ; GNE
T 0.700 GeneticVariation CLINVAR Atypical presentation of GNE myopathy with asymmetric hand weakness. 25182749

2014
dbSNP: rs121908627
rs121908627
CLTA ; GNE
T 0.700 GeneticVariation CLINVAR GNE myopathy in India. 24005727

2014
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: 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: rs773729410
rs773729410
CLTA ; GNE
A 0.700 CausalMutation CLINVAR Non-specific accumulation of glycosphingolipids in GNE myopathy. 24136589

2014
dbSNP: rs779694939
rs779694939
CLTA ; GNE
G 0.700 CausalMutation CLINVAR Two recurrent mutations are associated with GNE myopathy in the North of Britain. 24695763

2014
dbSNP: rs779694939
rs779694939
CLTA ; GNE
G 0.700 CausalMutation CLINVAR Non-specific accumulation of glycosphingolipids in GNE myopathy. 24136589

2014
dbSNP: rs121908627
rs121908627
CLTA ; GNE
T 0.700 GeneticVariation CLINVAR Clinical characteristics and molecular genetic analysis of Korean patients with GNE myopathy. 23549799

2013