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: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome
0.090 GeneticVariation disease BEFREE However, there are no studies reporting the effects of DBS on MDS with double mutations in DYT1 and DYT11. 28102337 2017
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome
0.090 GeneticVariation disease BEFREE Our data confirms that SGCE mutations are most commonly identified in MDS patients with (1) age at onset ≤10 years and (2) predominant upper body involvement of a pure myoclonus-dystonia. 25209853 2014
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome
0.090 GeneticVariation disease BEFREE Earlier onset of motor symptoms is indicated in MDS patients who are SGCE mutations carriers. 23561547 2013
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome
0.090 Biomarker disease BEFREE Our findings show that functional analysis of rare missense mutations can provide a mechanistic insight into the pathogenesis of MDS and the physiological role of ε-sarcoglycan. 21796726 2011
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome
0.090 GeneticVariation disease BEFREE The epsilon sarcoglycan (SGCE) gene is an important cause of MDS. 17853490 2008
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome
0.090 GeneticVariation disease BEFREE This is the first report on Chinese with a SGCE mutation leading to MDS. 18581468 2008
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome
0.090 Biomarker disease BEFREE The wide distribution of the defective SCGE in DYT11-MDS may justify the involvement of different brain areas. 18759336 2008
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome
0.090 GeneticVariation disease BEFREE These data demonstrate that some MDS-associated mutations in SGCE impair trafficking of the mutant protein to the plasma membrane and suggest a role for torsinA and the ubiquitin proteasome system in the recognition and processing of misfolded epsilon-sarcoglycan. 17200151 2007
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome
0.090 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