SGCE, sarcoglycan epsilon, 8910

N. diseases: 68; N. variants: 27
Disease: Myoclonic dystonia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 GeneticVariation disease CLINVAR
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 GermlineCausalMutation disease ORPHANET
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 Biomarker disease CTD_human
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 CausalMutation disease CLINVAR A major locus for myoclonus-dystonia maps to chromosome 7q in eight families. 11022010 2000
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 Biomarker disease GENOMICS_ENGLAND Myoclonus-dystonia syndrome (MDS; DYT11) is an autosomal dominant disorder characterized by bilateral, alcohol-sensitive myoclonic jerks involving mainly the arms and axial muscles. 11528394 2001
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 GeneticVariation disease BEFREE Myoclonus-dystonia syndrome (MDS; DYT11) is an autosomal dominant disorder characterized by bilateral, alcohol-sensitive myoclonic jerks involving mainly the arms and axial muscles. 11528394 2001
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 GeneticVariation disease UNIPROT Myoclonus-dystonia syndrome (MDS; DYT11) is an autosomal dominant disorder characterized by bilateral, alcohol-sensitive myoclonic jerks involving mainly the arms and axial muscles. 11528394 2001
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 Biomarker disease GENOMICS_ENGLAND SGCE deficiency seems to be the common pathogenetic mechanism in myoclonus-dystonia syndrome. 12325078 2002
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 Biomarker disease GENOMICS_ENGLAND SGCE deficiency seems to be the common pathogenetic mechanism in myoclonus-dystonia syndrome. 12325078 2002
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 Biomarker disease BEFREE SGCE deficiency seems to be the common pathogenetic mechanism in myoclonus-dystonia syndrome. 12325078 2002
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 GeneticVariation disease BEFREE Autosomal dominant alcohol-responsive M-D is associated with mutations in the epsilon-sarcoglycan gene (SGCE) (six families) and with a missense change in the D2 dopamine receptor (DRD2)gene (one family). 12391346 2002
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 GeneticVariation disease BEFREE Myoclonus-dystonia has recently been associated with mutations in the epsilon-sarcoglycan gene (SCGE) on 7q21. 12391355 2002
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 GeneticVariation disease BEFREE Myoclonus-dystonia is a movement disorder associated with mutations in the epsilon-sarcoglycan gene (SGCE) in most families and in the DRD2 and DYT1 genes in two single families. 12402271 2002
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 GeneticVariation disease UNIPROT Myoclonus-dystonia is a movement disorder associated with mutations in the epsilon-sarcoglycan gene (SGCE) in most families and in the DRD2 and DYT1 genes in two single families. 12402271 2002
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 AlteredExpression disease BEFREE Loss of imprinting in the patient with M-D who had biallelic expression of the SGCE gene was associated with partial loss of methylation at several CpG dinucleotides. 12444570 2002
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 GeneticVariation disease BEFREE The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted. 12634861 2003
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 GeneticVariation disease BEFREE Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation. 12707948 2003
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 GeneticVariation disease BEFREE A novel mutation in the epsilon-sarcoglycan gene causing myoclonus-dystonia syndrome. 12743249 2003
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 GeneticVariation disease BEFREE Myoclonus-dystonia syndrome (MDS) is a disorder for which the major cause appears to be mutations in the epsilon-sarcoglycan gene (SGCE). 12874409 2003
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 GeneticVariation disease BEFREE Epsilon-sarcoglycan mutation accounts for a sub-group of myoclonus-dystonia, but other genes are still unidentified. 14628853 2003
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 GeneticVariation disease BEFREE We describe 3 children with a similar clinical picture of autosomal dominant M-D and an SGCE mutation in only one of them, suggesting that M-D is genetically heterogeneous. 14978685 2004
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 GeneticVariation disease UNIPROT Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations. 15079037 2004
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 GeneticVariation disease BEFREE Recently, mutations in the epsilon-sarcoglycan gene (SGCE) were shown to cause M-D. 15258227 2004
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 GeneticVariation disease UNIPROT Recently, mutations in the epsilon-sarcoglycan gene (SGCE) were shown to cause M-D. 15258227 2004
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 GeneticVariation disease BEFREE Mutations in the epsilon-sarcoglycan gene (SGCE) have been reported in families with myoclonus-dystonia (M-D). 15368614 2004