rs751037529
|
|
|
0.810 |
GeneticVariation |
BEFREE |
The homozygous variant, c.850G>C (p.G284R), in the parkin gene is possibly responsible for AR-JP in this pedigree.
|
27177722 |
2016 |
rs751037529
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease.
|
23279440 |
2013 |
rs751037529
|
|
G |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
rs147757966
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Covalent ISG15 conjugation positively regulates the ubiquitin E3 ligase activity of parkin.
|
27534820 |
2016 |
rs147757966
|
|
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 |
rs137853054
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Parkinson's Disease in Saudi Patients: A Genetic Study.
|
26274610 |
2015 |
rs137853054
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Genomic and Functional Analysis of the E3 Ligase PARK2 in Glioma.
|
25877876 |
2015 |
rs191486604
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Structural and Functional Impact of Parkinson Disease-Associated Mutations in the E3 Ubiquitin Ligase Parkin.
|
25939424 |
2015 |
rs34424986
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts.
|
25815004 |
2015 |
rs34424986
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
The KM-parkin-DB: A Sub-set MutationView Database Specialized for PARK2 (PARKIN) Variants.
|
25907632 |
2015 |
rs34424986
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Heterozygote carriers for CNVs in PARK2 are at increased risk of Parkinson's disease.
|
26188007 |
2015 |
rs147757966
|
|
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 |
rs34424986
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Mutation analysis of PARK2 in a Uyghur family with early-onset Parkinson's disease in Xinjiang, China.
|
24831986 |
2014 |
rs137853054
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Genetic analysis of PARK2 and PINK1 genes in Brazilian patients with early-onset Parkinson's disease.
|
24167364 |
2013 |
rs137853054
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Mutational screening of PARKIN identified a 3' UTR variant (rs62637702) associated with Parkinson's disease.
|
23275044 |
2013 |
rs137853054
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease.
|
23279440 |
2013 |
rs137853057
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease.
|
23279440 |
2013 |
rs137853058
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease.
|
23279440 |
2013 |
rs137853060
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease.
|
23279440 |
2013 |
rs147757966
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
A molecular explanation for the recessive nature of parkin-linked Parkinson's disease.
|
23770917 |
2013 |
rs191486604
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
The principal PINK1 and Parkin cellular events triggered in response to dissipation of mitochondrial membrane potential occur in primary neurons.
|
23751051 |
2013 |
rs191486604
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Genotype and phenotype in Parkinson's disease: lessons in heterogeneity from deep brain stimulation.
|
23818421 |
2013 |
rs191486604
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease.
|
23279440 |
2013 |
rs34424986
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease.
|
23279440 |
2013 |
rs397514694
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease.
|
23279440 |
2013 |