SNCA, synuclein alpha, 6622

N. diseases: 36; N. variants: 44
Source: CURATED ×
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 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 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 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 GENOMICS_ENGLAND
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.800 Biomarker disease CTD_human Metabolic activity determines efficacy of macroautophagic clearance of pathological oligomeric alpha-synuclein. 19628769 2009
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.800 GeneticVariation disease UNIPROT The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia. 14755719 2004
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.700 Biomarker disease CTD_human In humans, mutations in the alpha-synuclein gene or exposure to the neurotoxin 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) produce Parkinson's disease with loss of dopaminergic neurons and depletion of nigrostriatal dopamine. alpha-Synuclein is a vertebrate-specific component of presynaptic nerve terminals that may function in modulating synaptic transmission. 12732244 2003
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.700 Biomarker disease CTD_human Mechanism of copper(II)-induced misfolding of Parkinson's disease protein. 22355530 2011
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.700 Biomarker disease CTD_human Alpha-synuclein is a lipid-binding protein expressed in neurons and oligodendrocytes which is increased in Parkinson's disease. 18841091 2008
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.700 Biomarker disease CTD_human These results suggest that ACR may initiate vicious cycle of modification and aggregation of proteins, including alphaSYN, and impaired proteolysis system, to cause neuronal death in PD. 17690948 2007
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.700 Biomarker disease CTD_human There were 833 case-control pairs.We observed an increased risk of PD with increasing SNCA REP1 bp length (OR, 1.18 for each score unit; 95% CI, 1.02-1.37; p = 0.03). 18322262 2008
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.700 Biomarker disease CTD_human Correlation between the biochemical pathways altered by mutated parkinson-related genes and chronic exposure to manganese. 25149416 2014
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.700 Biomarker disease CTD_human By comparing results of a GWAS performed on individuals of European ancestry, we identified PARK16, SNCA and LRRK2 as shared risk loci for PD and BST1 and MAPT as loci showing population differences. 19915576 2009
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.700 Biomarker disease CTD_human Neuroinflammation and α-synuclein dysfunction potentiate each other, driving chronic progression of neurodegeneration in a mouse model of Parkinson's disease. 21245015 2011
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.700 Biomarker disease CTD_human The aggregation of alpha-synuclein is believed to be a critical factor in the etiology of Parkinson's disease. alpha-Synuclein is an abundant neuronal protein of unknown function, which is enriched in the presynaptic terminals of neurons. 12885775 2003
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.700 Biomarker disease CTD_human Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. 25064009 2014