|
rs34637584
|
|
Movement Disorders
|
A |
0.720 |
CausalMutation
|
CLINVAR |
Pathogenic LRRK2 variants are gain-of-function mutations that enhance LRRK2-mediated repression of β-catenin signaling.
|
28103901 |
2017 |
|
rs34637584
|
|
Movement Disorders
|
A |
0.720 |
CausalMutation
|
CLINVAR |
Parkinson's disease-associated mutations in LRRK2 link enhanced GTP-binding and kinase activities to neuronal toxicity.
|
17200152 |
2007 |
|
rs34637584
|
|
Movement Disorders
|
A |
0.720 |
CausalMutation
|
CLINVAR |
LRRK2 gene in Parkinson disease: mutation analysis and case control association study.
|
16157901 |
2005 |
|
rs34637584
|
|
Movement Disorders
|
A |
0.720 |
CausalMutation
|
CLINVAR |
Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology.
|
15541309 |
2004 |
|
rs34637584
|
|
Movement Disorders
|
A |
0.720 |
CausalMutation
|
CLINVAR |
Parkinson disease phenotype in Ashkenazi Jews with and without LRRK2 G2019S mutations.
|
24243757 |
2013 |
|
rs34637584
|
|
Movement Disorders
|
A |
0.720 |
CausalMutation
|
CLINVAR |
Comprehensive analysis of LRRK2 in publicly available Parkinson's disease cases and neurologically normal controls.
|
18213618 |
2008 |
|
rs34637584
|
|
Movement Disorders
|
A |
0.720 |
CausalMutation
|
CLINVAR |
Disease penetrance of late-onset parkinsonism: a meta-analysis.
|
25330418 |
2014 |
|
rs34637584
|
|
Movement Disorders
|
A |
0.720 |
CausalMutation
|
CLINVAR |
Clinical traits of LRRK2-associated Parkinson's disease in Ireland: a link between familial and idiopathic PD.
|
16102999 |
2005 |
|
rs963172852
|
|
Movement Disorders
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Two-step processing of human frataxin by mitochondrial processing peptidase. Precursor and intermediate forms are cleaved at different rates.
|
11020385 |
2000 |
|
rs963172852
|
|
Movement Disorders
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Processing peptidases in mitochondria and chloroplasts.
|
22495024 |
2013 |
|
rs963172852
|
|
Movement Disorders
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.
|
25808372 |
2015 |
|
rs963172852
|
|
Movement Disorders
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease.
|
27148589 |
2016 |
|
rs963172852
|
|
Movement Disorders
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.
|
26657514 |
2016 |
|
rs963172852
|
|
Movement Disorders
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase.
|
9700204 |
1998 |
|
rs946006593
|
|
Movement Disorders
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Diagnostic exome sequencing in persons with severe intellectual disability.
|
23033978 |
2012 |
|
rs946006593
|
|
Movement Disorders
|
A |
0.700 |
CausalMutation
|
CLINVAR |
GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila.
|
23644463 |
2013 |
|
rs946006593
|
|
Movement Disorders
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience.
|
26944241 |
2016 |
|
rs946006593
|
|
Movement Disorders
|
A |
0.700 |
CausalMutation
|
CLINVAR |
De novo mutations in moderate or severe intellectual disability.
|
25356899 |
2014 |
|
rs917027829
|
|
Movement Disorders
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): a single entity?
|
19487654 |
2009 |
|
rs917027829
|
|
Movement Disorders
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids.
|
18794495 |
2008 |
|
rs917027829
|
|
Movement Disorders
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Biology and action of colony--stimulating factor-1.
|
8981357 |
1997 |
|
rs917027829
|
|
Movement Disorders
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.
|
22197934 |
2011 |
|
rs917027829
|
|
Movement Disorders
|
A |
0.700 |
CausalMutation
|
CLINVAR |
A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids.
|
23816250 |
2013 |
|
rs917027829
|
|
Movement Disorders
|
A |
0.700 |
CausalMutation
|
CLINVAR |
MRI characteristics and scoring in HDLS due to CSF1R gene mutations.
|
22843259 |
2012 |
|
rs917027829
|
|
Movement Disorders
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Early involvement of the corpus callosum in a patient with hereditary diffuse leukoencephalopathy with spheroids carrying the de novo K793T mutation of CSF1R.
|
23411710 |
2013 |