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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C | 0.800 | CausalMutation | CLINVAR | |||||||||
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AT | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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ATTATCAAAT | 0.700 | GeneticVariation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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TA | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.800 | CausalMutation | CLINVAR | A major locus for myoclonus-dystonia maps to chromosome 7q in eight families. | 11022010 | 2000 | ||||||
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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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0.700 | GeneticVariation | UNIPROT | Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. | 11528394 | 2001 | |||||||
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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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0.700 | GeneticVariation | UNIPROT | Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations. | 12402271 | 2002 | |||||||
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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 |