Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.100 GeneticVariation CLINVAR Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy. 15987957

2005
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.100 CausalMutation CLINVAR Clinical characteristics and molecular genetic analysis of Korean patients with GNE myopathy. 23549799

2013
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.100 CausalMutation CLINVAR Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand. 16810679

2006
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.100 GeneticVariation CLINVAR Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathy. 20175955

2010
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.100 CausalMutation CLINVAR GNE myopathy in Roma patients homozygous for the p.I618T founder mutation. 26231298

2015
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.100 CausalMutation CLINVAR Prevalence of GNE p.M712T and hereditary inclusion body myopathy (HIBM) in Sangesar population of Northern Iran. 23278550

2013
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.100 CausalMutation CLINVAR GNE myopathy in India. 24005727

2014
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.100 CausalMutation CLINVAR Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on hereditary inclusion body myopathy. 16503651

2006
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.100 GeneticVariation CLINVAR GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM. 12473769

2002
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.100 GeneticVariation CLINVAR Domain-specific characteristics of the bifunctional key enzyme of sialic acid biosynthesis, UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase. 15330759

2004
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.100 GeneticVariation CLINVAR Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis. 25617006

2015
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.100 CausalMutation CLINVAR Novel Mutation of the GNE Gene Presenting Atypical Mild Clinical Feature: A Korean Case Report. 26161358

2015
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.100 CausalMutation CLINVAR The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. 11528398

2001
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.100 CausalMutation CLINVAR Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy. 12473753

2002
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.100 GeneticVariation CLINVAR Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE. 21708040

2011
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.100 CausalMutation CLINVAR Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737). 12409274

2002
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.100 GeneticVariation CLINVAR Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy. 27858732

2015
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.100 CausalMutation CLINVAR Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy. 15987957

2005
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.100 GeneticVariation CLINVAR Novel GNE compound heterozygous mutations in a GNE myopathy patient. 23558691

2013
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.100 GeneticVariation CLINVAR Atypical presentation of GNE myopathy with asymmetric hand weakness. 25182749

2014
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.100 GeneticVariation CLINVAR Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy. 25986339

2015
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.100 GeneticVariation CLINVAR Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant. 15136692

2004
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.100 GeneticVariation CLINVAR A family with distal myopathy with rimmed vacuoles associated with thrombocytopenia. 24737350

2014
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.100 GeneticVariation CLINVAR GNE myopathy in India. 24005727

2014
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.100 GeneticVariation CLINVAR Non-specific accumulation of glycosphingolipids in GNE myopathy. 24136589

2014