| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy. | 15146476 | 2004 |
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|
0.800 | GeneticVariation | UNIPROT | GNE mutations causing distal myopathy with rimmed vacuoles with inflammation. | 12913203 | 2003 |
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|
0.800 | GeneticVariation | UNIPROT | Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy. | 12811782 | 2003 |
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|
0.800 | GeneticVariation | UNIPROT | Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps. | 12497639 | 2003 |
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|
0.800 | GeneticVariation | UNIPROT | Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE). | 11916006 | 2002 |
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|
0.800 | GeneticVariation | UNIPROT | GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM. | 12473769 | 2002 |
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|
0.800 | GeneticVariation | UNIPROT | Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene. | 12177386 | 2002 |
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|
0.800 | GeneticVariation | UNIPROT | Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy. | 12473753 | 2002 |
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|
0.800 | GeneticVariation | UNIPROT | A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees. | 12325084 | 2002 |
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|
0.800 | GeneticVariation | UNIPROT | Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737). | 12409274 | 2002 |
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|
0.800 | GeneticVariation | UNIPROT | An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene. | 12473780 | 2002 |
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|
0.800 | GeneticVariation | UNIPROT | The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. | 11528398 | 2001 |
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|
C | 0.800 | CausalMutation | CLINVAR |