rs137853054
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Parkin mono-ubiquitinates Bcl-2 and regulates autophagy.
|
20889974 |
2010 |
rs137853054
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular chaperone-mediated rescue of mitophagy by a Parkin RING1 domain mutant.
|
20889486 |
2011 |
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 |
Parkinson's Disease in Saudi Patients: A Genetic Study.
|
26274610 |
2015 |
rs137853054
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2.
|
18211709 |
2008 |
rs137853054
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Mutational screening of the parkin gene among South Indians with early onset Parkinson's disease.
|
16227559 |
2005 |
rs137853054
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile Parkinson's disease.
|
19801972 |
2009 |
rs137853054
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease.
|
12629236 |
2003 |
rs137853054
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Genomic and Functional Analysis of the E3 Ligase PARK2 in Glioma.
|
25877876 |
2015 |
rs137853054
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism.
|
9560156 |
1998 |
rs137853054
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Cerebellar and pyramidal dysfunctions, palpebral ptosis and weakness as presenting symptoms of PARK-2.
|
18973255 |
2009 |
rs137853054
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular findings in familial Parkinson disease in Spain.
|
12056932 |
2002 |
rs137853054
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Relative high frequency of the c.255delA parkin gene mutation in Spanish patients with autosomal recessive parkinsonism.
|
12397156 |
2002 |
rs137853054
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
PINK1 stabilized by mitochondrial depolarization recruits Parkin to damaged mitochondria and activates latent Parkin for mitophagy.
|
20404107 |
2010 |
rs137853054
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Mutational screening of PARKIN identified a 3' UTR variant (rs62637702) associated with Parkinson's disease.
|
23275044 |
2013 |
rs137853054
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Familial Parkinsonism and early onset Parkinson's disease in a Brazilian movement disorders clinic: phenotypic characterization and frequency of SNCA, PRKN, PINK1, and LRRK2 mutations.
|
19205068 |
2009 |
rs137853054
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel mutations, pseudo-dominant inheritance, and possible familial affects in patients with autosomal recessive juvenile parkinsonism.
|
10939576 |
2000 |
rs137853054
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
[A new point mutation on exon 2 of parkin gene in Parkinson's disease].
|
12362318 |
2002 |
rs137853054
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Parkin ubiquitinates the alpha-synuclein-interacting protein, synphilin-1: implications for Lewy-body formation in Parkinson disease.
|
11590439 |
2001 |
rs137853054
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease.
|
12629236 |
2003 |
rs137853054
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease.
|
23279440 |
2013 |
rs137853054
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations.
|
11971093 |
2002 |
rs137853054
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The autosomal recessive juvenile Parkinson disease gene product, parkin, interacts with and ubiquitinates synaptotagmin XI.
|
12925569 |
2003 |
rs137853054
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Parkin mutations are frequent in patients with isolated early-onset parkinsonism.
|
12764050 |
2003 |
rs137853054
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|