SNCA, synuclein alpha, 6622

N. diseases: 449; N. variants: 66
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
0.800 CausalMutation disease CLINVAR
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
0.800 Biomarker disease BEFREE 14-3-3 protein sigma isoform co-localizes with phosphorylated α-synuclein in Lewy bodies and Lewy neurites in patients with Lewy body disease. 29555518 2018
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
0.800 Biomarker disease BEFREE Dementia with Lewy bodies (DLB) and Parkinson's Disease (PD) are neurodegenerative disorders of the aging population characterized by the abnormal accumulation of alpha-synuclein (alpha-syn). 21103359 2010
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
0.800 Biomarker disease BEFREE Lewy body dementia is the second most common neurodegenerative dementia and is pathologically characterized by α-synuclein positive cytoplasmic inclusions, with varying amounts of amyloid-β (Aβ) and hyperphosphorylated tau (tau) aggregates in addition to synaptic loss. 28269775 2017
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
0.800 Biomarker disease BEFREE Lewy body disease (LBD) is characterized by accumulation of aggregated α-synuclein in the central nervous system as eosinophilic cytoplasmic inclusions called Lewy bodies. 29909202 2018
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
0.800 GeneticVariation disease BEFREE Dementia with lewy bodies: GBA1 mutations are associated with cerebrospinal fluid alpha-synuclein profile. 31189032 2019
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
0.800 Biomarker disease BEFREE Alpha-synuclein protein is present in the pathologic lesions of familial and sporadic PD, and diffuse Lewy body disease, indicating an important pathogenic role for alpha-synuclein. 10967135 2000
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
0.800 Biomarker disease BEFREE alpha-Synuclein has been identified as a component of Lewy bodies in Parkinson's disease and diffuse Lewy body disease, and glial cytoplasmic inclusions (GCIs) in multiple system atrophy (MSA). 11279280 2001
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
0.800 Biomarker disease BEFREE Alpha-synuclein in familial Alzheimer disease: epitope mapping parallels dementia with Lewy bodies and Parkinson disease. 11708989 2001
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
0.800 Biomarker disease BEFREE Alpha-synuclein is a major component of Lewy bodies (LBs) in the substantia nigra and cortex in Parkinson's disease (PD) and dementia with Lewy bodies (DLB), and in glial inclusions in multiple systems atrophy (MSA). 12498958 2003
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
0.800 Biomarker disease BEFREE alpha-Synuclein aggregation and toxicity play a major role in Parkinson's disease and dementia with Lewy bodies. 15522241 2004
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
0.800 Biomarker disease BEFREE Alpha-synuclein mutations are much less frequent, but the importance of alpha-synuclein has been confirmed by the demonstration of alpha-synuclein deposition as Lewy bodies in patients with PD and Lewy body dementia. 17563248 2007
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
0.800 Biomarker disease BEFREE alpha-Synuclein (alpha-syn) is the major component of pathologic inclusions that characterize neurodegenerative disorders such as Parkinson disease, dementia with Lewy body disease, and multiple system atrophy. 18451726 2008
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
0.800 Biomarker disease BEFREE Alpha-synuclein (alpha-syn) aggregation is a neuropathological hallmark of many diseases including Dementia with Lewy Bodies (DLB) and Parkinson's Disease (PD), collectively termed the alpha-synucleinopathies. 19944097 2010
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
0.800 Biomarker disease BEFREE α-Synuclein dysfunction is the critical pathogenic event in Parkinson's disease, multiple system atrophy and dementia with Lewy bodies. 21863007 2011
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
0.800 PosttranslationalModification disease BEFREE α-Synuclein is causative for autosomal dominant familial Parkinson disease and dementia with Lewy bodies, and the phosphorylation of α-synuclein at residue Ser-129 is a key posttranslational modification detected in Parkinson disease/dementia with Lewy bodies lesions. 22232559 2012
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
0.800 Biomarker disease BEFREE α-Synuclein has been reported to be important in modulating brain plasticity and to be a key protein in neurodegenerative diseases, including Lewy body dementia (LBD). 23175842 2012
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
0.800 Biomarker disease BEFREE α-Synuclein aggregation in neurons is a well-characterized feature of Parkinson's disease and dementia with Lewy bodies. 24502382 2014
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
0.800 Biomarker disease BEFREE Alpha-synuclein is a key protein in Parkinson disease (PD) and dementia with Lewy bodies. 25383638 2014
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
0.800 Biomarker disease BEFREE Alpha-synuclein (αSyn) plays a central role in the pathogenesis of Parkinson's disease (PD) and dementia with Lewy bodies (DLB). 26362253 2015
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
0.800 GeneticVariation disease BEFREE Alpha-Synuclein (aSyn) misfolding and aggregation is common in several neurodegenerative diseases, including Parkinson's disease and dementia with Lewy bodies, which are known as synucleinopathies. 27123591 2016
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
0.800 Biomarker disease BEFREE α-Synuclein is the major component of Lewy bodies and Lewy neurites in Parkinson disease and dementia with Lewy bodies and of glial cytoplasmic inclusions in multiple system atrophy. 27226637 2016
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
0.800 Biomarker disease BEFREE α-Synuclein (α-syn) aggregates (Lewy bodies) in Dementia with Lewy Bodies (DLB) may be associated with disturbed calcium homeostasis and oxidative stress. 27746320 2016