Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
0.100 GeneticVariation disease CLINVAR Mutation update for GNE gene variants associated with GNE myopathy. 24796702 2014
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
0.100 GeneticVariation disease CLINVAR Atypical presentation of GNE myopathy with asymmetric hand weakness. 25182749 2014
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
0.100 GeneticVariation disease CLINVAR GNE myopathy in India. 24005727 2014
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
0.100 CausalMutation disease CLINVAR Mutation update for GNE gene variants associated with GNE myopathy. 24796702 2014
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
0.100 CausalMutation disease CLINVAR Non-specific accumulation of glycosphingolipids in GNE myopathy. 24136589 2014
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
0.100 CausalMutation disease CLINVAR GNE myopathy in Roma patients homozygous for the p.I618T founder mutation. 26231298 2015
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
0.100 GeneticVariation disease CLINVAR GNE myopathy: current update and future therapy. 25002140 2015
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
0.100 GeneticVariation disease CLINVAR Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele. 27829678 2017
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
0.100 GeneticVariation disease CLINVAR Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy. 28717665 2017