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 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 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 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 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 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 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 Biomarker disease GENOMICS_ENGLAND
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 CausalMutation disease CLINVAR
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 Biomarker disease CTD_human
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 Biomarker disease GENOMICS_ENGLAND
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.800 Biomarker disease BEFREE We recently reported here that SNCA triplication results in a doubling in the amount of alpha-synuclein protein in blood from cases with hereditary Lewy body disease. 15663960 2005
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.800 Biomarker disease BEFREE Increasing evidence suggests that α-synuclein (αS) aggregates in brains of individuals with Parkinson's disease and dementia with Lewy bodies can spread in a prion-like manner. 30030380 2018
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.800 Biomarker disease BEFREE The interaction of α-synuclein with PSEN1 was detected in post-mortem brain tissue from cognitively normal cases and was significantly increased in tissue from cases with dementia with Lewy bodies and familial Alzheimer's disease associated with known PSEN1 mutations. 24860142 2014
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 CTD_human Preliminary analyses have identified 2 proteins with lipoxidative damage, alpha-synuclein and manganese superoxide dismutase (SOD2), in incidentally Lewy body disease cortex. 16141792 2005
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.800 Biomarker disease BEFREE Yet to interfere with disease pathogenesis, we must dissect how small changes in αS homeostasis may give rise to Parkinson's disease (PD), dementia with Lewy bodies (DLB) and other human synucleinopathies. 30319334 2018
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.800 Biomarker disease BEFREE Alpha-synuclein (aSyn) is the major protein component of Lewy bodies and Lewy neurites, the typical pathological hallmarks in Parkinson's disease (PD) and Dementia with Lewy bodies. aSyn is capable of inducing transcriptional deregulation, but the precise effect of specific aSyn mutants associated with familial forms of PD, remains unclear. 30092270 2018
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.800 AlteredExpression disease BEFREE This study indicates that although levels of soluble α-synuclein protein are lower in DLB and PD, there is no evidence for a corresponding decrease in α-synuclein mRNA levels. 22560502 2012
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 Biomarker disease BEFREE We evaluated the presence of phosphorylated α-synuclein in the retina of autopsied subjects with PD (9 subjects), incidental Lewy body disease (4 subjects), and controls (6 subjects) by immunohistochemistry and compared the retinal synucleinopathy with brain disease severity indicators. 29737566 2018
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.800 Biomarker disease BEFREE Parkinson's disease (PD), dementia with Lewy bodies (DLB), and multiple system atrophy (MSA) are neurodegenerative disorders which have been pathologically classified as synucleinopathies, since they are associated with pathognomonic deposits of misfolded alpha-synuclein in cells of the nervous system. 29116402 2018
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