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 """Jerky"" dystonia in children: spectrum of phenotypes and genetic testing." 19117362 2009
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 GeneticVariation disease BEFREE (1) To study the neuropsychological and psychopathological profile in myoclonus-dystonia (M-D) patients with and without a mutation in the DYT11 gene. 22626943 2012
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 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 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 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 UNIPROT Myoclonus dystonia syndrome (MDS) is an autosomal dominant movement disorder caused by mutations in the epsilon-sarcoglycan gene (SGCE) on chromosome 7q21. 16227522 2006
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 GeneticVariation disease BEFREE Myoclonus dystonia syndrome (MDS) is an autosomal dominant movement disorder caused by mutations in the epsilon-sarcoglycan gene (SGCE) on chromosome 7q21. 16227522 2006
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 GeneticVariation disease BEFREE Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene. 16240355 2005
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 GeneticVariation disease BEFREE Myoclonus-dystonia (M-D, DYT11) is a dystonia plus syndrome characterized by brief myoclonic jerks predominantly of neck and upper limbs in combination with focal or segmental dystonia. 17898012 2007
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 GeneticVariation disease BEFREE Myoclonus-dystonia (M-D) is an autosomal dominant movement disorder caused by mutations in the epsilon-sarcoglycan gene (DYT11). 18265016 2008
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 GeneticVariation disease UNIPROT Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations. 18362280 2008
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 GeneticVariation disease BEFREE Myoclonus-dystonia is a movement disorder often associated with mutations in the maternally imprinted epsilon-sarcoglycan (SGCE) gene located on chromosome 7q21. 18852357 2008
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 GeneticVariation disease BEFREE Myoclonus-dystonia (M-D) is characterized by early-onset myoclonus and dystonia, and is often due to mutations in the epsilon-sarcoglycan gene (SCGE) at locus 7q21. 19133653 2009
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 GeneticVariation disease BEFREE Myoclonus-dystonia (M-D) is caused by heterozygous mutations of the epsilon-sarcoglycan gene (SGCE). 20590807 2010
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 GeneticVariation disease BEFREE Myoclonus-dystonia (M-D) is a movement disorder that is often associated with mutations in epsilon-sarcoglycan (SGCE), a maternally imprinted gene at 7q21.3. 23237735 2013
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 GeneticVariation disease BEFREE Myoclonus-dystonia with a proven SGCE mutation. 24638021 2014
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 GeneticVariation disease BEFREE Myoclonus-dystonia (M-D) is a very rare movement disorder, caused in ∼30-50% of cases by mutations in SGCE. 26157024 2015