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
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
0.900 GeneticVariation disease UNIPROT Molecular determinants of α-synuclein mutants' oligomerization and membrane interactions. 25561023 2015
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
0.900 GeneticVariation disease UNIPROT The H50Q mutation enhances α-synuclein aggregation, secretion, and toxicity. 24936070 2014
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
0.900 GeneticVariation disease UNIPROT A novel α-synuclein missense mutation in Parkinson disease. 23427326 2013
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
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
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
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
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
0.900 Biomarker disease GENOMICS_ENGLAND
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
0.900 Biomarker disease CTD_human
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 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 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 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: 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 We identified 13 common genes (ADARB2, CEACAM6, CNTNAP2, COL19A1, DEF4, DRAXIN, FCER2, HBG1, NCAPG2, PVRL2, SLC2A14, SNCA, and TCL1B) showing significant differential expression between G2019S-associated PD and asymptomatic carriers and also between idiopathic PD and controls but not between untreated and treated patients. 25475535 2015
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.700 Biomarker disease CTD_human BAG1 is neuroprotective in in vivo and in vitro models of Parkinson's disease. 25106480 2015
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.700 Biomarker disease CTD_human One major advance in this field has been the discovery of several genes associated to familial PD, including alpha synuclein, parkin, LRRK2, etc., thereby providing important insight toward basic research approaches. 25631236 2015
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 Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. 25064009 2014
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.700 Biomarker disease CTD_human Overexpression of human E46K mutant α-synuclein impairs macroautophagy via inactivation of JNK1-Bcl-2 pathway. 24833599 2014
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.700 Biomarker disease CTD_human The olfactory bulb (OB) is one of the first brain regions in Parkinson's disease (PD) to contain alpha-synuclein (α-syn) inclusions, possibly associated with nonmotor symptoms. 24509835 2014
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.700 Biomarker disease CTD_human Neuronal vulnerability in Parkinson's disease. 22166454 2012
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.700 Biomarker disease CTD_human GSM-900MHz at low dose temperature-dependently downregulates α-synuclein in cultured cerebral cells independently of chaperone-mediated-autophagy. 22185909 2012
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