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: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia
0.020 GeneticVariation disease BEFREE Results of M-D patients with a pathogenic variant of SGCE were compared to results of idiopathic cervical dystonia (CD) patients, dopa-responsive dystonia (DRD) patients with a pathogenic variant of GCH1 and controls. 31706131 2019
CUI: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia
0.020 Biomarker disease BEFREE Dystonias with known genes include DYT1 and DYT6 dystonia, presenting as isolated torsion dystonia, as well as DYT5 (dopa-responsive dystonia), DYT11 (myoclonus-dystonia), and DYT12 (rapid-onset dystonia-parkinsonism), where dystonia occurs in conjunction with other types of movement disorders. 23622412 2013