| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.800 | CausalMutation | CLINVAR | Covalent ISG15 conjugation positively regulates the ubiquitin E3 ligase activity of parkin. | 27534820 | 2016 |
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|
T | 0.800 | CausalMutation | CLINVAR | Interaction between RING1 (R1) and the Ubiquitin-like (UBL) Domains Is Critical for the Regulation of Parkin Activity. | 26631732 | 2016 |
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|
T | 0.800 | CausalMutation | CLINVAR | Phosphorylation of Parkin at Serine65 is essential for activation: elaboration of a Miro1 substrate-based assay of Parkin E3 ligase activity. | 24647965 | 2014 |
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|
T | 0.800 | CausalMutation | CLINVAR | A molecular explanation for the recessive nature of parkin-linked Parkinson's disease. | 23770917 | 2013 |
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|
T | 0.800 | CausalMutation | CLINVAR | Impact of autosomal recessive juvenile Parkinson's disease mutations on the structure and interactions of the parkin ubiquitin-like domain. | 21348451 | 2011 |
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|
T | 0.800 | CausalMutation | CLINVAR | Autoregulation of Parkin activity through its ubiquitin-like domain. | 21694720 | 2011 |
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|
T | 0.800 | CausalMutation | CLINVAR | Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations. | 19636047 | 2009 |
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|
T | 0.800 | CausalMutation | CLINVAR | Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early-onset Parkinson's Disease. | 16643317 | 2006 |
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|
T | 0.800 | CausalMutation | CLINVAR | Pathogenic mutations inactivate parkin by distinct mechanisms. | 15606901 | 2005 |
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|
0.800 | GeneticVariation | UNIPROT |