SNCA, synuclein alpha, 6622

N. diseases: 36; N. variants: 44
Disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder) ×
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893877
rs104893877
Entrez Id: 6622
Gene Symbol: SNCA
SNCA
CUI: C1868595
Disease:
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder) 		0.800 GeneticVariation UNIPROT Molecular determinants of α-synuclein mutants' oligomerization and membrane interactions. 25561023 2015
dbSNP: rs104893877
rs104893877
Entrez Id: 6622
Gene Symbol: SNCA
SNCA
CUI: C1868595
Disease:
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder) 		0.800 GeneticVariation UNIPROT The H50Q mutation enhances α-synuclein aggregation, secretion, and toxicity. 24936070 2014
dbSNP: rs104893877
rs104893877
Entrez Id: 6622
Gene Symbol: SNCA
SNCA
CUI: C1868595
Disease:
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder) 		0.800 GeneticVariation UNIPROT Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease. 23457019 2013
dbSNP: rs104893877
rs104893877
Entrez Id: 6622
Gene Symbol: SNCA
SNCA
CUI: C1868595
Disease:
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder) 		0.800 GeneticVariation UNIPROT A novel α-synuclein missense mutation in Parkinson disease. 23427326 2013
dbSNP: rs104893877
rs104893877
Entrez Id: 6622
Gene Symbol: SNCA
SNCA
CUI: C1868595
Disease:
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder) 		0.800 GeneticVariation UNIPROT The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia. 14755719 2004
dbSNP: rs104893877
rs104893877
Entrez Id: 6622
Gene Symbol: SNCA
SNCA
CUI: C1868595
Disease:
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder) 		0.800 GeneticVariation UNIPROT Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease. 9462735 1998
dbSNP: rs104893877
rs104893877
Entrez Id: 6622
Gene Symbol: SNCA
SNCA
CUI: C1868595
Disease:
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder) 		0.800 GeneticVariation UNIPROT Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. 9197268 1997
dbSNP: rs104893877
rs104893877
Entrez Id: 6622
Gene Symbol: SNCA
SNCA
CUI: C1868595
Disease:
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder) 		T 0.800 CausalMutation CLINVAR