SYNE1, spectrin repeat containing nuclear envelope protein 1, 23345
N. diseases: 237; N. variants: 76
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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0.010 | GeneticVariation | BEFREE | Our data confirms the association between rs9371601 and BPD, but the underlying biological mechanism remains to be fully elucidated in further studies. | 31236099 | 2019 | |||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.700 | GeneticVariation | GWASCAT | Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. | 23453885 | 2013 | |||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | GWASCAT | Genome-wide association study identifies 30 loci associated with bipolar disorder. | 31043756 | 2019 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | ||||||||||
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0.800 | GeneticVariation | UNIPROT | ||||||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | SYNE1 mutations in autosomal recessive cerebellar ataxia. | 23959263 | 2013 | ||||||
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C | 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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C | 0.700 | CausalMutation | CLINVAR | SYNE1 mutations in autosomal recessive cerebellar ataxia. | 23959263 | 2013 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. | 17159980 | 2007 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | GWASCAT | Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism. | 28537267 | 2017 |