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 CausalMutation CLINVAR Two recurrent mutations are associated with GNE myopathy in the North of Britain. 24695763

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

2014
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.100 CausalMutation CLINVAR Nationwide patient registry for GNE myopathy in Japan. 25303967

2014
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.100 GeneticVariation CLINVAR Two recurrent mutations are associated with GNE myopathy in the North of Britain. 24695763

2014
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 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 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 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 GeneticVariation CLINVAR Novel GNE mutations in autosomal recessive hereditary inclusion body myopathy patients. 23437777

2013
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.100 GeneticVariation CLINVAR Respiratory dysfunction in patients severely affected by GNE myopathy (distal myopathy with rimmed vacuoles). 23127962

2013
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.100 CausalMutation CLINVAR Limb-girdle phenotype is frequent in patients with myopathy associated with GNE mutations. 22883483

2012
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.100 GeneticVariation CLINVAR Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations. 22507750

2012
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.100 GeneticVariation CLINVAR Muscle imaging findings in GNE myopathy. 22231866

2012
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.100 CausalMutation CLINVAR Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations. 22507750

2012
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.100 CausalMutation CLINVAR Crystal structures of N-acetylmannosamine kinase provide insights into enzyme activity and inhibition. 22343627

2012
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 Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles. 21307865

2011
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.100 CausalMutation 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 GeneticVariation CLINVAR Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles. 21307865

2011
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.100 GeneticVariation CLINVAR Distal myopathy with rimmed vacuoles: clinical and muscle morphological characteristics and spectrum of GNE gene mutations in 53 Chinese patients. 22196754

2011
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.100 CausalMutation CLINVAR Distal myopathy with rimmed vacuoles: clinical and muscle morphological characteristics and spectrum of GNE gene mutations in 53 Chinese patients. 22196754

2011
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 GeneticVariation CLINVAR Novel GNE mutations in hereditary inclusion body myopathy patients of non-Middle Eastern descent. 20059379

2010
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.100 CausalMutation CLINVAR Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria. 19917666

2010
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.100 CausalMutation CLINVAR The spectrum of GNE mutations: allelic heterogeneity for a common phenotype. 20300792

2010