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 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 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 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 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 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 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 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 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 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 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 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 report on the second M-D family in which several clinically affected epsilon-sarcoglycan gene (SGCE) mutation carriers have seizures in addition to myoclonus and dystonia, adding to the evidence that epilepsy and EEG abnormalities may form part of the phenotypic spectrum of the condition. 15389977 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
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