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: C0154676
Disease: Organic writer's cramp
Organic writer's cramp
0.030 GeneticVariation disease BEFREE In our cohort, writer's cramp as presenting symptom is not associated with mutations in DYT11, DYT16, but it can be the sole manifestation of DYT1 GAG deletion mutation carriers. 19441135 2009
CUI: C0154676
Disease: Organic writer's cramp
Organic writer's cramp
0.030 Biomarker disease BEFREE In children with writer's cramp screening of the SGCE gene should be considered, even with a negative family history. 18571946 2009
CUI: C0154676
Disease: Organic writer's cramp
Organic writer's cramp
0.030 GeneticVariation disease BEFREE Unusual familial presentation of epsilon-sarcoglycan gene mutation with falls and writer's cramp. 18702114 2008