Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs769215411
rs769215411
CLTA ; GNE
A 0.810 GeneticVariation CLINVAR GNE myopathy in India. 24005727

2014
dbSNP: rs769215411
rs769215411
CLTA ; GNE
0.810 GeneticVariation UNIPROT Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy. 15146476

2004
dbSNP: rs769215411
rs769215411
CLTA ; GNE
0.810 GeneticVariation BEFREE Two sisters affected with autosomal-recessive h-IBM were shown to be compound heterozygous for two novel GNE mutations: a large deletion involving exons 1-9, and a R162C amino acid change in the epimerase domain. 12811782

2003
dbSNP: rs769215411
rs769215411
CLTA ; GNE
A 0.810 GeneticVariation CLINVAR Two sisters affected with autosomal-recessive h-IBM were shown to be compound heterozygous for two novel GNE mutations: a large deletion involving exons 1-9, and a R162C amino acid change in the epimerase domain. 12811782

2003
dbSNP: rs769215411
rs769215411
CLTA ; GNE
0.810 GeneticVariation UNIPROT Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps. 12497639

2003
dbSNP: rs769215411
rs769215411
CLTA ; GNE
0.810 GeneticVariation UNIPROT GNE mutations causing distal myopathy with rimmed vacuoles with inflammation. 12913203

2003
dbSNP: rs769215411
rs769215411
CLTA ; GNE
0.810 GeneticVariation UNIPROT Two sisters affected with autosomal-recessive h-IBM were shown to be compound heterozygous for two novel GNE mutations: a large deletion involving exons 1-9, and a R162C amino acid change in the epimerase domain. 12811782

2003
dbSNP: rs769215411
rs769215411
CLTA ; GNE
0.810 GeneticVariation UNIPROT Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy. 12473753

2002
dbSNP: rs769215411
rs769215411
CLTA ; GNE
0.810 GeneticVariation UNIPROT Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene. 12177386

2002
dbSNP: rs769215411
rs769215411
CLTA ; GNE
0.810 GeneticVariation UNIPROT Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE). 11916006

2002
dbSNP: rs769215411
rs769215411
CLTA ; GNE
0.810 GeneticVariation UNIPROT A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees. 12325084

2002
dbSNP: rs769215411
rs769215411
CLTA ; GNE
0.810 GeneticVariation UNIPROT An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene. 12473780

2002
dbSNP: rs769215411
rs769215411
CLTA ; GNE
0.810 GeneticVariation UNIPROT GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM. 12473769

2002
dbSNP: rs769215411
rs769215411
CLTA ; GNE
0.810 GeneticVariation UNIPROT Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737). 12409274

2002
dbSNP: rs769215411
rs769215411
CLTA ; GNE
0.810 GeneticVariation UNIPROT The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. 11528398

2001