Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
NONAKA MYOPATHY
|
0.810 | CausalMutation | CLINVAR | Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy. | 27858732 | 2015 | |||||
NONAKA MYOPATHY
|
0.810 | GeneticVariation | BEFREE | GNE myopathy in Roma patients homozygous for the p.I618T founder mutation. | 26231298 | 2015 | |||||
NONAKA MYOPATHY
|
0.810 | CausalMutation | CLINVAR | GNE myopathy in Roma patients homozygous for the p.I618T founder mutation. | 26231298 | 2015 | |||||
NONAKA MYOPATHY
|
0.810 | CausalMutation | CLINVAR | Two recurrent mutations are associated with GNE myopathy in the North of Britain. | 24695763 | 2014 | |||||
NONAKA MYOPATHY
|
0.810 | CausalMutation | CLINVAR | Distal myopathy with rimmed vacuoles: clinical and muscle morphological characteristics and spectrum of GNE gene mutations in 53 Chinese patients. | 22196754 | 2011 | |||||
NONAKA MYOPATHY
|
0.810 | CausalMutation | CLINVAR | In the present eight patients with DMRV, direct sequencing analysis revealed one homozygous mutation of c.1760T>C (p.I587T) and seven compound heterozygous mutations in the GNE gene. | 21307865 | 2011 | |||||
NONAKA MYOPATHY
|
0.810 | CausalMutation | CLINVAR | The spectrum of GNE mutations: allelic heterogeneity for a common phenotype. | 20300792 | 2010 | |||||
NONAKA MYOPATHY
|
0.810 | CausalMutation | CLINVAR | Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on hereditary inclusion body myopathy. | 16503651 | 2006 | |||||
NONAKA MYOPATHY
|
0.810 | GeneticVariation | UNIPROT | Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy. | 15146476 | 2004 | |||||
NONAKA MYOPATHY
|
0.810 | GeneticVariation | UNIPROT | Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy. | 12811782 | 2003 | |||||
NONAKA MYOPATHY
|
0.810 | GeneticVariation | UNIPROT | Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps. | 12497639 | 2003 | |||||
NONAKA MYOPATHY
|
0.810 | CausalMutation | CLINVAR | Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps. | 12497639 | 2003 | |||||
NONAKA MYOPATHY
|
0.810 | GeneticVariation | UNIPROT | GNE mutations causing distal myopathy with rimmed vacuoles with inflammation. | 12913203 | 2003 | |||||
NONAKA MYOPATHY
|
0.810 | GeneticVariation | UNIPROT | An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene. | 12473780 | 2002 | |||||
NONAKA MYOPATHY
|
0.810 | GeneticVariation | UNIPROT | Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE). | 11916006 | 2002 | |||||
NONAKA MYOPATHY
|
0.810 | GeneticVariation | UNIPROT | Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy. | 12473753 | 2002 | |||||
NONAKA MYOPATHY
|
0.810 | GeneticVariation | UNIPROT | Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737). | 12409274 | 2002 | |||||
NONAKA MYOPATHY
|
0.810 | GeneticVariation | UNIPROT | Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene. | 12177386 | 2002 | |||||
NONAKA MYOPATHY
|
0.810 | GeneticVariation | UNIPROT | GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM. | 12473769 | 2002 | |||||
NONAKA MYOPATHY
|
0.810 | GeneticVariation | UNIPROT | A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees. | 12325084 | 2002 | |||||
NONAKA MYOPATHY
|
0.810 | GeneticVariation | UNIPROT | The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. | 11528398 | 2001 | |||||
NONAKA MYOPATHY
|
0.810 | GeneticVariation | CLINVAR | ||||||||
Sialuria
|
0.700 | GeneticVariation | CLINVAR |