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)
CUI: C1868595
Disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
0.800 CausalMutation CLINVAR
Lewy Body Disease
CUI: C0752347
Disease: Lewy Body Disease
0.760 CausalMutation CLINVAR
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.100 GeneticVariation BEFREE 123I-FP-CIT SPECT [(123) I-2β-carbomethoxy-3β-(4-iodophenyl)-N-(3-fluoropropyl) nortropane single photon emission computed tomography] Imaging in a p.A53T α-synuclein Parkinson's disease cohort versus Parkinson's disease. 30288781 2018
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
0.040 GeneticVariation BEFREE Thus, expression of A</span>53T mutant human alpha-synuclein in mice results in adult-onset hyperactivity associated with D1 receptor and dopamine transporter-mediated alterations in dopamine neurotransmission. 16230020 2006
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
0.050 GeneticVariation BEFREE Neuroblastoma cells were stably transfected with wild type (WT) and A53T mutant alpha-synuclein. 16584840 2006
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
0.050 GeneticVariation BEFREE Neuroblastoma cells were stably transfected with wild type (WT) and A53T mutant alpha-synuclein. 16584840 2006
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
0.050 GeneticVariation BEFREE Neuroblastoma cells were stably transfected with wild type (WT) and A53T mutant alpha-synuclein. 16584840 2006
Parkinson Disease, Familial, Type 1
CUI: C3489791
Disease: Parkinson Disease, Familial, Type 1
0.070 GeneticVariation BEFREE Autosomal dominant Parkinson disease (PD) is caused by duplication or triplication of the alpha-synuclein gene as well as by the A30P, E46K, and A53T mutations.The mechanisms are unknown. 17012252 2006
Gastrointestinal dysfunction
CUI: C0679407
Disease: Gastrointestinal dysfunction
0.020 GeneticVariation BEFREE Gastrointestinal dysfunction in A53T αS mice represents an early sign of αS-driven pathology without concomitant CNS involvement. 30774946 2019
Mitochondrial abnormalities
CUI: C4020732
Disease: Mitochondrial abnormalities
0.010 GeneticVariation BEFREE Ala-53-->Thr (A53T)-mutant alpha-Syn and Gly-93-->Ala (G93A)-mutant SOD1 tg mice develop prominent mitochondrial abnormalities. 17593875 2007
Memory impairment
CUI: C0233794
Disease: Memory impairment
0.020 GeneticVariation BEFREE A53T mice also exhibit spatial memory deficits at 6 and 12 months, as demonstrated by Y-maze performance. 23936403 2013
Anxiety Disorders
CUI: C0003469
Disease: Anxiety Disorders
0.030 GeneticVariation BEFREE A53T (SNCA) and wild type (WT) littermate mice were evaluated for motor function (rotarod and stride length) and anxiety (elevated plus maze and open field) every 2 weeks. 23938351 2013
Anxiety
CUI: C0003467
Disease: Anxiety
0.030 GeneticVariation BEFREE A53T (SNCA) and wild type (WT) littermate mice were evaluated for motor function (rotarod and stride length) and anxiety (elevated plus maze and open field) every 2 weeks. 23938351 2013
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.100 GeneticVariation BEFREE A53T mutant α-synuclein-transfected cells (A53T AS cells) plus MPP<sup>+</sup> exposure were used as a complex cell model of PD. 28187263 2017
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.100 GeneticVariation BEFREE A53T) are known to be directly associated with Parkinson's disease (PD). 28442946 2017
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.100 GeneticVariation BEFREE A53T-α-synuclein overexpression in murine locus coeruleus induces Parkinson's disease-like pathology in neurons and glia. 29747690 2018
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.100 GeneticVariation BEFREE A53T missense mutations in the SNCA gene has been proved to enhance the expression of SNCA and accelerate the onset of PD. 30080657 2018
Parkinson Disease, Familial, Type 1
CUI: C3489791
Disease: Parkinson Disease, Familial, Type 1
0.070 GeneticVariation BEFREE A de novo alpha-synuclein A53T (p.Ala53 Th; c.209G > A) mutation has been identified in a Swedish family with autosomal dominant Parkinson's disease (PD). 19632874 2009
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.100 GeneticVariation BEFREE A missense mutation of SNCA (A53T) was found in a familial PD with autosomal dominant inheritance. 18704525 2008
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
CUI: C1868595
Disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
0.800 GeneticVariation UNIPROT A novel α-synuclein missense mutation in Parkinson disease. 23427326 2013
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.010 GeneticVariation BEFREE A screen of Greek patients presenting with frontotemporal dementia failed to identify any additional subjects with the p.A53T SNCA mutation. 28012952 2017
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
0.010 GeneticVariation BEFREE A screen of Greek patients presenting with frontotemporal dementia failed to identify any additional subjects with the p.A53T SNCA mutation. 28012952 2017
Autosomal Dominant Parkinsonism
CUI: C0752098
Disease: Autosomal Dominant Parkinsonism
0.010 GeneticVariation BEFREE A specific mutation (A53T) in the encoding region for alpha-synuclein has been identified in a large multigenerational family with an autosomal dominant parkinsonism known as the Contursi kindred. 9878203 1998
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
0.100 GeneticVariation BEFREE A30P and A53T mutations of the presynaptic protein alpha-synuclein are associated with familial forms of Parkinson disease. 16020550 2005
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.100 GeneticVariation BEFREE A30P and A53T mutations of the presynaptic protein alpha-synuclein are associated with familial forms of Parkinson disease. 16020550 2005