rs121908630, GNE;CLTA

N. diseases: 1
Disease: NONAKA MYOPATHY ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
NONAKA MYOPATHY
CUI: C1853926
Disease: NONAKA MYOPATHY
0.700 GeneticVariation UNIPROT Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy. 15146476 2004
NONAKA MYOPATHY
CUI: C1853926
Disease: NONAKA MYOPATHY
0.700 GeneticVariation UNIPROT GNE mutations causing distal myopathy with rimmed vacuoles with inflammation. 12913203 2003
NONAKA MYOPATHY
CUI: C1853926
Disease: NONAKA MYOPATHY
0.700 GeneticVariation UNIPROT Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy. 12811782 2003
NONAKA MYOPATHY
CUI: C1853926
Disease: NONAKA MYOPATHY
0.700 GeneticVariation UNIPROT Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps. 12497639 2003
NONAKA MYOPATHY
CUI: C1853926
Disease: NONAKA MYOPATHY
0.700 GeneticVariation UNIPROT Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737). 12409274 2002
NONAKA MYOPATHY
CUI: C1853926
Disease: NONAKA MYOPATHY
0.700 GeneticVariation UNIPROT GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM. 12473769 2002
NONAKA MYOPATHY
CUI: C1853926
Disease: NONAKA MYOPATHY
0.700 GeneticVariation UNIPROT Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy. 12473753 2002
NONAKA MYOPATHY
CUI: C1853926
Disease: NONAKA MYOPATHY
0.700 GeneticVariation UNIPROT A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees. 12325084 2002
NONAKA MYOPATHY
CUI: C1853926
Disease: NONAKA MYOPATHY
0.700 GeneticVariation UNIPROT Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene. 12177386 2002
NONAKA MYOPATHY
CUI: C1853926
Disease: NONAKA MYOPATHY
0.700 GeneticVariation UNIPROT An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene. 12473780 2002
NONAKA MYOPATHY
CUI: C1853926
Disease: NONAKA MYOPATHY
0.700 GeneticVariation UNIPROT Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE). 11916006 2002
NONAKA MYOPATHY
CUI: C1853926
Disease: NONAKA MYOPATHY
0.700 GeneticVariation UNIPROT The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. 11528398 2001