SGCE, sarcoglycan epsilon, 8910

N. diseases: 68; N. variants: 27
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.070 GeneticVariation group 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: C0026650
Disease: Movement Disorders
Movement Disorders
0.070 GeneticVariation group LHGDN 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: C0026650
Disease: Movement Disorders
Movement Disorders
0.070 GeneticVariation group BEFREE Myoclonus-dystonia (M-D) is an autosomal dominantly inherited movement disorder with myoclonic jerks and dystonic contractions most frequently due to a mutation in the epsilon-sarcoglycan (SGCE, DYT11) gene. 18571946 2009
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.070 GeneticVariation group 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: C0026650
Disease: Movement Disorders
Movement Disorders
0.070 GeneticVariation group BEFREE Myoclonus-dystonia (M-D) is a movement disorder frequently caused by mutations in the epsilon-sarcoglycan gene (SGCE, DYT11). 19506430 2009
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.070 Biomarker group BEFREE DYT11 myoclonus-dystonia (M-D) syndrome is a neurological movement disorder characterized by myoclonic jerks and dystonic postures or movement that can be alleviated by alcohol. 22438980 2012
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.070 GeneticVariation group 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: C0026650
Disease: Movement Disorders
Movement Disorders
0.070 GeneticVariation group BEFREE Myoclonus-dystonia (M-D) due to a pathogenic variant of SGCE is an autosomal dominant inherited movement disorder. 31706131 2019