Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8910
Gene Symbol: SGCE
SGCE
1.000 GeneticVariation disease CLINVAR
Entrez Id: 8910
Gene Symbol: SGCE
SGCE
1.000 GermlineCausalMutation disease ORPHANET
Entrez Id: 8910
Gene Symbol: SGCE
SGCE
1.000 Biomarker disease CTD_human
Entrez Id: 1813
Gene Symbol: DRD2
DRD2
0.570 GeneticVariation disease ORPHANET
Entrez Id: 1813
Gene Symbol: DRD2
DRD2
0.570 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 79734
Gene Symbol: KCTD17
KCTD17
0.510 Biomarker disease CTD_human
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.390 GeneticVariation disease ORPHANET
Entrez Id: 317714
Gene Symbol: DYT15
DYT15
0.320 ChromosomalRearrangement disease ORPHANET
Entrez Id: 8910
Gene Symbol: SGCE
SGCE
1.000 CausalMutation disease CLINVAR """Jerky"" dystonia in children: spectrum of phenotypes and genetic testing." 19117362 2009
Entrez Id: 8910
Gene Symbol: SGCE
SGCE
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
Entrez Id: 8910
Gene Symbol: SGCE
SGCE
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
Entrez Id: 8910
Gene Symbol: SGCE
SGCE
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
Entrez Id: 8910
Gene Symbol: SGCE
SGCE
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
Entrez Id: 8910
Gene Symbol: SGCE
SGCE
1.000 GeneticVariation disease BEFREE Myoclonus-dystonia has recently been associated with mutations in the epsilon-sarcoglycan gene (SCGE) on 7q21. 12391355 2002
Entrez Id: 8910
Gene Symbol: SGCE
SGCE
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
Entrez Id: 8910
Gene Symbol: SGCE
SGCE
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
Entrez Id: 1813
Gene Symbol: DRD2
DRD2
0.570 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
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.390 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
Entrez Id: 8910
Gene Symbol: SGCE
SGCE
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
Entrez Id: 8910
Gene Symbol: SGCE
SGCE
1.000 GeneticVariation disease UNIPROT Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations. 15079037 2004
Entrez Id: 8910
Gene Symbol: SGCE
SGCE
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
Entrez Id: 8910
Gene Symbol: SGCE
SGCE
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
Entrez Id: 8910
Gene Symbol: SGCE
SGCE
1.000 GeneticVariation disease BEFREE Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene. 16240355 2005
Entrez Id: 8910
Gene Symbol: SGCE
SGCE
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
Entrez Id: 8910
Gene Symbol: SGCE
SGCE
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