Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs779694939
rs779694939
CLTA ; GNE
G 0.800 GeneticVariation CLINVAR Two recurrent mutations are associated with GNE myopathy in the North of Britain. 24695763

2014
dbSNP: rs779694939
rs779694939
CLTA ; GNE
G 0.800 CausalMutation CLINVAR Two recurrent mutations are associated with GNE myopathy in the North of Britain. 24695763

2014
dbSNP: rs779694939
rs779694939
CLTA ; GNE
G 0.800 CausalMutation CLINVAR Non-specific accumulation of glycosphingolipids in GNE myopathy. 24136589

2014
dbSNP: rs779694939
rs779694939
CLTA ; GNE
G 0.800 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: rs779694939
rs779694939
CLTA ; GNE
G 0.800 GeneticVariation CLINVAR Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy. 15987957

2005
dbSNP: rs779694939
rs779694939
CLTA ; GNE
G 0.800 CausalMutation CLINVAR Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy. 15987957

2005
dbSNP: rs779694939
rs779694939
CLTA ; GNE
G 0.800 GeneticVariation CLINVAR GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM. 12473769

2002
dbSNP: rs779694939
rs779694939
CLTA ; GNE
G 0.800 CausalMutation CLINVAR GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM. 12473769

2002
dbSNP: rs779694939
rs779694939
CLTA ; GNE
0.800 GeneticVariation UNIPROT