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: C0040822
Disease: Tremor
Tremor
0.120 Biomarker phenotype BEFREE We report a novel GNAL mutation and expand the clinical spectrum associated with mutations in this gene to comprise pure asymmetric dystonic tremor and a jerky cervical phenotype partially mimicking DYT11 positive cases. 26725140 2016
CUI: C0040822
Disease: Tremor
Tremor
0.120 GeneticVariation phenotype BEFREE SGCE mutation positive cases were systematically assessed using standardized psychiatric interviews and questionnaires and compared with a disability-matched control group of patients with alcohol responsive tremor. 23365103 2013
CUI: C0040822
Disease: Tremor
Tremor
0.120 Biomarker phenotype HPO