Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
NONAKA MYOPATHY
|
0.800 | CausalMutation | CLINVAR | Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy. | 25986339 | 2015 | |||||
NONAKA MYOPATHY
|
0.800 | CausalMutation | CLINVAR | Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy). | 24027297 | 2014 | |||||
NONAKA MYOPATHY
|
0.800 | CausalMutation | CLINVAR | Clinical characteristics and molecular genetic analysis of Korean patients with GNE myopathy. | 23549799 | 2013 | |||||
NONAKA MYOPATHY
|
0.800 | CausalMutation | CLINVAR | [Distal myopathy due to mutations of GNE gene: clinical spectrum and diagnosis]. | 18555875 | 2008 | |||||
NONAKA MYOPATHY
|
0.800 | CausalMutation | CLINVAR | We herein report four Thai patients with DMRV who carried compound heterozygous mutations of the GNE gene including three novel (p.G89R, p.P511T, and p.I656N) and two known mutations (p.A524V and p.V696M). | 16810679 | 2006 | |||||
NONAKA MYOPATHY
|
0.800 | CausalMutation | CLINVAR | Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles. | 14707127 | 2004 | |||||
NONAKA MYOPATHY
|
0.800 | GeneticVariation | UNIPROT | Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy. | 15146476 | 2004 | |||||
NONAKA MYOPATHY
|
0.800 | GeneticVariation | UNIPROT | Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy. | 12811782 | 2003 | |||||
NONAKA MYOPATHY
|
0.800 | GeneticVariation | UNIPROT | GNE mutations causing distal myopathy with rimmed vacuoles with inflammation. | 12913203 | 2003 | |||||
NONAKA MYOPATHY
|
0.800 | GeneticVariation | UNIPROT | Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps. | 12497639 | 2003 | |||||
NONAKA MYOPATHY
|
0.800 | GeneticVariation | UNIPROT | An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene. | 12473780 | 2002 | |||||
NONAKA MYOPATHY
|
0.800 | GeneticVariation | UNIPROT | Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737). | 12409274 | 2002 | |||||
NONAKA MYOPATHY
|
0.800 | CausalMutation | CLINVAR | Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737). | 12409274 | 2002 | |||||
NONAKA MYOPATHY
|
0.800 | GeneticVariation | UNIPROT | Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene. | 12177386 | 2002 | |||||
NONAKA MYOPATHY
|
0.800 | GeneticVariation | UNIPROT | Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy. | 12473753 | 2002 | |||||
NONAKA MYOPATHY
|
0.800 | GeneticVariation | UNIPROT | Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE). | 11916006 | 2002 | |||||
NONAKA MYOPATHY
|
0.800 | GeneticVariation | UNIPROT | A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees. | 12325084 | 2002 | |||||
NONAKA MYOPATHY
|
0.800 | GeneticVariation | UNIPROT | GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM. | 12473769 | 2002 | |||||
NONAKA MYOPATHY
|
0.800 | GeneticVariation | UNIPROT | The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. | 11528398 | 2001 | |||||
NONAKA MYOPATHY
|
0.800 | GeneticVariation | CLINVAR | ||||||||
Sialuria
|
0.700 | GeneticVariation | CLINVAR |