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 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 CausalMutation CLINVAR A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. 17704511

2007
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.100 CausalMutation CLINVAR A Japanese patient with distal myopathy with rimmed vacuoles: missense mutations in the epimerase domain of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene accompanied by hyposialylation of skeletal muscle glycoproteins. 14733963

2004
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.100 GeneticVariation CLINVAR Activation of the Unfolded Protein Response in Sporadic Inclusion-Body Myositis but Not in Hereditary GNE Inclusion-Body Myopathy. 25978849

2015
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 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 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 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 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 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 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 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 CausalMutation 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 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 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 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 CausalMutation CLINVAR Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene. 12177386

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 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 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 Genetics of GNE myopathy in the non-Jewish Persian population. 25966635

2016
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 CausalMutation 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 CausalMutation CLINVAR GNE myopathy in India. 24005727

2014