rs104893877, SNCA

N. diseases: 59
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
0.800 GeneticVariation UNIPROT Molecular determinants of α-synuclein mutants' oligomerization and membrane interactions. 25561023 2015
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
0.800 GeneticVariation UNIPROT The H50Q mutation enhances α-synuclein aggregation, secretion, and toxicity. 24936070 2014
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
0.800 GeneticVariation UNIPROT A novel α-synuclein missense mutation in Parkinson disease. 23427326 2013
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
0.800 GeneticVariation UNIPROT Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease. 23457019 2013
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
0.800 GeneticVariation UNIPROT The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia. 14755719 2004
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
0.800 GeneticVariation UNIPROT Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease. 9462735 1998
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
0.800 GeneticVariation UNIPROT Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. 9197268 1997
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
0.800 CausalMutation CLINVAR
Lewy Body Disease
CUI: C0752347
Disease: Lewy Body Disease
0.760 GeneticVariation BEFREE Proteinase K-resistant alpha-synuclein is deposited in presynapses in human Lewy body disease and A53T alpha-synuclein transgenic mice. 20339856 2010
Lewy Body Disease
CUI: C0752347
Disease: Lewy Body Disease
0.760 GeneticVariation BEFREE Abundant neuritic inclusions and microvacuolar changes in a case of diffuse Lewy body disease with the A53T mutation in the alpha-synuclein gene. 15981014 2005
Lewy Body Disease
CUI: C0752347
Disease: Lewy Body Disease
0.760 GeneticVariation BEFREE Missense mutations (A30P and A53T) in alpha-synuclein and the overproduction of the wild-type protein cause familial forms of Parkinson's disease and dementia with Lewy bodies. 15498564 2004
Lewy Body Disease
CUI: C0752347
Disease: Lewy Body Disease
0.760 GeneticVariation BEFREE Later, the discovery of two missense mutations (G88C and G209A), which resulted in Ala30Pro (A30P) and Ala53Thr (A53T) substitutions, of the alpha-synuclein gene in certain autosomal-dominant early onset familial Parkinson's disease (PD) has greatly promoted the understanding of the role of alpha-synuclein in the pathogenesis of neurodegenerative diseases, such as PD, dementia with Lewy bodies (DLB) and multiple system atrophy (MSA) [5,6,51,75]. 12719631 2003
Lewy Body Disease
CUI: C0752347
Disease: Lewy Body Disease
0.760 GeneticVariation BEFREE The presynaptic protein alpha-synuclein is a prime suspect for contributing to Lewy pathology and clinical aspects of diseases, including Parkinson's disease, dementia with Lewy bodies, and a Lewy body variant of Alzheimer's disease. alpha-Synuclein accumulates in Lewy bodies and Lewy neurites, and two missense mutations (A53T and A30P) in the alpha-synuclein gene are genetically linked to rare familial forms of Parkinson's disease. 10934251 2000
Lewy Body Disease
CUI: C0752347
Disease: Lewy Body Disease
0.760 GeneticVariation BEFREE In addition, we have sequenced exon 4 of this gene in 5 cases of familial disease and have screened for the specific mutation (A53T) in a 40 cases of idiopathic Parkinson's disease, 3 cases of multisystem atrophy, and 15 cases of Lewy body dementia. 9506559 1998
Lewy Body Disease
CUI: C0752347
Disease: Lewy Body Disease
0.760 CausalMutation CLINVAR
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.100 GeneticVariation BEFREE Chronic isolation stress is associated with increased colonic and motor symptoms in the A53T mouse model of Parkinson's disease. 31709672 2020
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.100 GeneticVariation BEFREE Taken together, GP-EX, including gypenosides, has ameliorative effects on dopaminergic neuronal cell death due to the overexpression of α-synuclein by modulating ERK1/2, Bad at Ser112, and JNK1/2 signaling in the midbrain of A53T mouse model of PD. 31552910 2020
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.100 GeneticVariation BEFREE Furthermore, to enhance the pathological properties of α-synuclein, we inserted into SNCA an A53T mutation, two single-nucleotide polymorphisms identified in a genome-wide association study in Parkinson's disease and a Rep1 polymorphism, all of which are causal of familial Parkinson's disease or increase the risk of sporadic Parkinson's disease. 31816026 2020
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.100 GeneticVariation BEFREE FTY720 (fingolimod) reduces synucleinopathy in A53T aSyn mice and motor dysfunction in 6-OHDA and rotenone PD models, but no one has tested FTY720 in mice that develop age-onset PD-like motor problems. 31129200 2019
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.100 GeneticVariation BEFREE We have previously developed a disease-in-a-dish model for familial PD using induced pluripotent stem cells (iPSCs) from two patients carrying the p.A53T α-synuclein (αSyn) mutation. 30989481 2019
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.100 GeneticVariation BEFREE Co-expressing α-synuclein with the Parkinson's disease (PD)-associated A53T mutation and GCaMP3 in midbrain DA neurons revealed augmented cytosolic steady state and activity-dependent intra-terminal calcium levels preferentially in DLS, as well as hyperactivation and enhanced expression of N-type calcium channels. 30890737 2019
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.100 GeneticVariation BEFREE Neurodegeneration and contralateral α-synuclein induction after intracerebral α-synuclein injections in the anterior olfactory nucleus of a Parkinson's disease A53T mouse model. 30987677 2019
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.100 GeneticVariation BEFREE In vivo experiments using A53T and viral-αSyn overexpression mouse models as well as human PD neuropathological results further confirm the role of Fyn in NLRP3 inflammasome activation. 31036561 2019
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.100 GeneticVariation BEFREE Caffeic acid reduces A53T α-synuclein by activating JNK/Bcl-2-mediated autophagy in vitro and improves behaviour and protects dopaminergic neurons in a mouse model of Parkinson's disease. 31707034 2019
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.100 GeneticVariation BEFREE Previously, we reported that intracranial inoculation of brain homogenate from multiple system atrophy (MSA) patient samples produces neurological disease in the transgenic (Tg) mouse model TgM83<sup>+/-</sup>, which uses the prion protein promoter to express human α-synuclein harboring the A53T mutation found in familial Parkinson's disease (PD). 30690664 2019