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: C1868595
Disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder) 		0.900 GeneticVariation disease UNIPROT Molecular determinants of α-synuclein mutants' oligomerization and membrane interactions. 25561023 2015
CUI: C1868595
Disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder) 		0.900 GeneticVariation disease UNIPROT The H50Q mutation enhances α-synuclein aggregation, secretion, and toxicity. 24936070 2014
CUI: C1868595
Disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder) 		0.900 GeneticVariation disease UNIPROT A novel α-synuclein missense mutation in Parkinson disease. 23427326 2013
CUI: C1868595
Disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder) 		0.900 GeneticVariation disease UNIPROT Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease. 23457019 2013
CUI: C1868595
Disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder) 		0.900 Biomarker disease MGD Alpha-synuclein A30P point-mutation generates age-dependent nigrostriatal deficiency in mice. 18622040 2008
CUI: C1868595
Disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder) 		0.900 GeneticVariation disease UNIPROT The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia. 14755719 2004
CUI: C1868595
Disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder) 		0.900 Biomarker disease MGD Mice lacking alpha-synuclein display functional deficits in the nigrostriatal dopamine system. 10707987 2000
CUI: C1868595
Disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder) 		0.900 GeneticVariation disease UNIPROT Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease. 9462735 1998
CUI: C1868595
Disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder) 		0.900 GeneticVariation disease UNIPROT Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. 9197268 1997
CUI: C1868595
Disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder) 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C1868595
Disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder) 		0.900 CausalMutation disease CLINVAR
CUI: C1868595
Disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder) 		0.900 Biomarker disease CTD_human
CUI: C1868595
Disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder) 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.800 AlteredExpression disease BEFREE Interestingly, both PD and incidental Lewy body disease tissues showed 100% concordance for elevated levels of pathological α-synuclein seeding activity compared to control tissues. 31758740 2020
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.800 Biomarker disease BEFREE This study highlights the therapeutic potential of α-synuclein immunotherapy for the treatment of PD and DLB, and provides a framework for screening of α-synuclein antibodies to identify those with preferred properties. 31837422 2020
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.800 Biomarker disease BEFREE They expressed truncated, oligomeric and proteinase K-resistant phosphorylated forms of α-synuclein in the regions that are specifically affected in Parkinson's disease and/or dementia with Lewy bodies, including the olfactory bulb, cerebral cortex, striatum and substantia nigra. 31816026 2020
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.800 Biomarker disease BEFREE α-Synuclein (α-Syn) is a key pathogenic protein in α-synucleinopathies including Parkinson disease and dementia with Lewy bodies. 31734439 2020
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.800 Biomarker disease BEFREE One of the pathological proteins, alpha-synuclein (α-syn), accumulates in the brains of Parkinson disease (PD), dementia with Lewy bodies (DLB) and multiple system atrophy (MSA), which are designated as synucleinopathies. 31785806 2020
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.800 Biomarker disease BEFREE PD, PD with dementia, and dementia with Lewy bodies are clinical syndromes characterized by the neuropathological accumulation of alpha-synuclein in the CNS that represent a clinicopathological spectrum known as Lewy body disorders. 31660655 2020
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.800 Biomarker disease BEFREE Our study suggests that catD upregulation may be an adaptive response to AD-related processes leading to neurofibrillary degeneration, but may not be directly associated with formation of α-synuclein inclusions in Lewy body dementia. 30051532 2019
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.800 Biomarker disease BEFREE The patients with Parkinson's disease, Parkinson's disease with dementia, and dementia with Lewy bodies whose brain pathology indicated deposit of alpha-synuclein along with the co-occurrence of tau pathology and amyloid-beta plaques presented LRP10 mutations. 31582232 2019
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.800 AlteredExpression disease BEFREE Although the mechanisms through which glucocerebrosidase regulates the homeostasis of α-synuclein remains poorly understood, the identification of reduced glucocerebrosidase activity in the brains of patients with PD and dementia with Lewy bodies has paved the way for the development of novel therapeutic strategies directed at enhancing glucocerebrosidase activity and reducing α-synuclein burden, thereby slowing down or even preventing neuronal death. 30589955 2019
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 α-Synuclein is the most thoroughly investigated because of its close association with Parkinson's disease (PD), dementia with Lewy bodies and multiple system atrophy. 30650656 2019
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.800 Biomarker disease BEFREE Alpha-synuclein (αS) is the major constituent of Lewy bodies and a pathogenic hallmark of all synucleinopathathies, including Parkinson's disease (PD), dementia with Lewy bodies (DLB), and multiple system atrophy (MSA). 31331359 2019