Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
|
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 | |||||||
|
|
|
GAAA | 0.700 | GeneticVariation | GWASCAT | Association analysis identifies 65 new breast cancer risk loci. | 29059683 | 2017 | ||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria. | 23677909 | 2013 | ||||||
|
|
|
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 | |||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | A patient with genetically confirmed myoclonus-dystonia responded to anticholinergic treatment and improved spontaneously. | 22259621 | 2011 | ||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | """Jerky"" dystonia in children: spectrum of phenotypes and genetic testing." | 19117362 | 2009 | ||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | Myoclonus-dystonia: clinical and genetic evaluation of a large cohort. | 19066193 | 2009 | |||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | Myoclonus-dystonia: significance of large SGCE deletions. | 18205193 | 2008 | ||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations. | 18362280 | 2008 | |||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations. | 18175340 | 2008 | |||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families. | 17853490 | 2008 | |||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | Myoclonus-dystonia: significance of large SGCE deletions. | 18205193 | 2008 | ||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | Myoclonus-dystonia: significance of large SGCE deletions. | 18205193 | 2008 | ||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers. | 17296918 | 2007 | ||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers. | 17296918 | 2007 | ||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes. | 16227522 | 2006 | |||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | The epsilon-sarcoglycan gene in myoclonic syndromes. | 15728306 | 2005 | ||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | Genetic heterogeneity in ten families with myoclonus-dystonia. | 15258227 | 2004 | |||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations. | 15079037 | 2004 | |||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations. | 12402271 | 2002 | |||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. | 11528394 | 2001 | |||||||
|
|
|
AT | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | GeneticVariation | CLINVAR |