SGCE, sarcoglycan epsilon, 8910

N. diseases: 68; N. variants: 27
Disease: Hamartoma Syndrome, Multiple ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.010 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