SGCE, sarcoglycan epsilon, 8910
N. diseases: 68; N. variants: 27
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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0.800 | GeneticVariation | UNIPROT | EFNS guidelines on diagnosis and treatment of primary dystonias. | 20482602 | 2011 | |||||||
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0.800 | GeneticVariation | UNIPROT | Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families. | 17853490 | 2008 | |||||||
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0.800 | GeneticVariation | UNIPROT | Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations. | 15079037 | 2004 | |||||||
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0.800 | GeneticVariation | UNIPROT | Genetic heterogeneity in ten families with myoclonus-dystonia. | 15258227 | 2004 | |||||||
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0.800 | GeneticVariation | UNIPROT | Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. | 11528394 | 2001 | |||||||
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0.800 | GeneticVariation | UNIPROT | Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations. | 18175340 | 2008 | |||||||
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0.800 | GeneticVariation | UNIPROT | Myoclonus-dystonia: clinical and genetic evaluation of a large cohort. | 19066193 | 2009 | |||||||
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0.800 | GeneticVariation | UNIPROT | Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations. | 18362280 | 2008 | |||||||
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0.800 | GeneticVariation | UNIPROT | Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations. | 12402271 | 2002 | |||||||
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0.800 | GeneticVariation | UNIPROT | Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes. | 16227522 | 2006 | |||||||
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0.800 | GeneticVariation | UNIPROT | A gain-of-glycosylation mutation associated with myoclonus-dystonia syndrome affects trafficking and processing of mouse ε-sarcoglycan in the late secretory pathway. | 21796726 | 2011 | |||||||
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0.800 | GeneticVariation | UNIPROT | EFNS guidelines on diagnosis and treatment of primary dystonias. | 20482602 | 2011 | |||||||
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0.700 | GeneticVariation | UNIPROT | Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. | 11528394 | 2001 | |||||||
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0.700 | GeneticVariation | UNIPROT | Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations. | 12402271 | 2002 | |||||||
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0.700 | GeneticVariation | UNIPROT | Genetic heterogeneity in ten families with myoclonus-dystonia. | 15258227 | 2004 | |||||||
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0.700 | GeneticVariation | UNIPROT | Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations. | 18362280 | 2008 | |||||||
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0.700 | GeneticVariation | UNIPROT | Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations. | 15079037 | 2004 | |||||||
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0.700 | GeneticVariation | UNIPROT | Myoclonus-dystonia: clinical and genetic evaluation of a large cohort. | 19066193 | 2009 | |||||||
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0.700 | GeneticVariation | UNIPROT | A gain-of-glycosylation mutation associated with myoclonus-dystonia syndrome affects trafficking and processing of mouse ε-sarcoglycan in the late secretory pathway. | 21796726 | 2011 | |||||||
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0.700 | GeneticVariation | UNIPROT | Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations. | 18175340 | 2008 | |||||||
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0.700 | GeneticVariation | UNIPROT | Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families. | 17853490 | 2008 | |||||||
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0.700 | GeneticVariation | UNIPROT | Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes. | 16227522 | 2006 | |||||||
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0.010 | GeneticVariation | BEFREE | In conclusion, we demonstrate that the KCTD17 c.434 G>A p.(Arg145His) mutation causes autosomal dominant M-D. Further functional studies are warranted to further characterize the nature of KCTD17 contribution to the molecular pathogenesis of M-D. | 25983243 | 2015 | |||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR |