rs201106962, SNCA

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
CUI: C1868595
Disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
0.700 GeneticVariation UNIPROT Molecular determinants of α-synuclein mutants' oligomerization and membrane interactions. 25561023 2015
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
CUI: C1868595
Disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
0.700 GeneticVariation UNIPROT The H50Q mutation enhances α-synuclein aggregation, secretion, and toxicity. 24936070 2014
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
CUI: C1868595
Disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
0.700 GeneticVariation UNIPROT Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease. 23457019 2013
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
CUI: C1868595
Disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
0.700 GeneticVariation UNIPROT A novel α-synuclein missense mutation in Parkinson disease. 23427326 2013
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
CUI: C1868595
Disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
0.700 GeneticVariation UNIPROT The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia. 14755719 2004
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
CUI: C1868595
Disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
0.700 GeneticVariation UNIPROT Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease. 9462735 1998
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
CUI: C1868595
Disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
0.700 GeneticVariation UNIPROT Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. 9197268 1997
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.090 GeneticVariation BEFREE Because copper homeostasis is deregulated in PD, it is of great significance to study the metal-binding site of wild-type α-syn (48-53, VVHGVA) and its pathological mutants (H50Q and G51D). 30777422 2019
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.090 GeneticVariation BEFREE Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease. 29398121 2018
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.090 GeneticVariation BEFREE Using seed growth by monomer association (SeGMA) assays to measure fibril growth over 3 h in the presence of C2-α-syn monomer, we observed that some familial PD-associated α-syn mutations (<i>i.e.</i> H50Q and A53T) greatly increased growth rates, whereas others (E46K, A30P, and G51D) decreased growth rates. 28373279 2017
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.090 GeneticVariation BEFREE The neuropathological features of these cases consistently share characteristics of PD and MSA and are distinct from PD patients carrying the H50Q or SNCA duplication. 26306801 2015
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.090 GeneticVariation BEFREE Besides the PD-related H50Q, we analyze a PD-unrelated control mutation, in which H50 is replaced by an arginine residue (H50R). 25886189 2015
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.090 GeneticVariation BEFREE Recently, a new missense mutation (H50Q) in α-Syn was described in patients with a familial form of PD and dementia. 24936070 2014
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.090 GeneticVariation BEFREE Here, we describe a novel missense mutation in exon 4 of SNCA encoding a H50Q substitution in a patient with dopa-responsive Parkinson's disease with a family history of parkinsonism and dementia. 23457019 2013
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.090 GeneticVariation BEFREE We recently reported a novel SNCA mutation (c.150T>G, p.H50Q) in PD brain-derived DNA. 23674490 2013
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.090 GeneticVariation BEFREE Understanding the aggregation mechanism of this H50Q mutant may help to establish the aggregation and phenotypic relationship of this novel mutant in PD. 24047453 2013
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
0.020 GeneticVariation BEFREE Recently, a new missense mutation (H50Q) in α-Syn was described in patients with a familial form of PD and dementia. 24936070 2014
Dementia
CUI: C0497327
Disease: Dementia
0.020 GeneticVariation BEFREE Recently, a new missense mutation (H50Q) in α-Syn was described in patients with a familial form of PD and dementia. 24936070 2014
Dementia
CUI: C0497327
Disease: Dementia
0.020 GeneticVariation BEFREE Here, we describe a novel missense mutation in exon 4 of SNCA encoding a H50Q substitution in a patient with dopa-responsive Parkinson's disease with a family history of parkinsonism and dementia. 23457019 2013
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
0.020 GeneticVariation BEFREE Here, we describe a novel missense mutation in exon 4 of SNCA encoding a H50Q substitution in a patient with dopa-responsive Parkinson's disease with a family history of parkinsonism and dementia. 23457019 2013
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
0.010 GeneticVariation BEFREE Here, we describe a novel missense mutation in exon 4 of SNCA encoding a H50Q substitution in a patient with dopa-responsive Parkinson's disease with a family history of parkinsonism and dementia. 23457019 2013