Annotation Detail

Information
Associated Genes
SNCA
Associated Variants
SNCA p.Gly51Asp (p.G51D) ( ENST00000336904.7, ENST00000345009.8, ENST00000394986.5, ENST00000394989.6, ENST00000394991.8, ENST00000420646.6, ENST00000502987.5, ENST00000505199.5, ENST00000506244.5, ENST00000508895.5, ENST00000611107.1, ENST00000618500.4, ENST00000673718.1, ENST00000673902.1, ENST00000674129.1 )
SNCA p.Gly51Asp (p.G51D) ( ENST00000336904.7, ENST00000345009.8, ENST00000394986.5, ENST00000394989.6, ENST00000394991.8, ENST00000420646.6, ENST00000502987.5, ENST00000505199.5, ENST00000506244.5, ENST00000508895.5, ENST00000611107.1, ENST00000618500.4, ENST00000673718.1, ENST00000673902.1, ENST00000674129.1 )
Associated Disease
multiple system atrophy
Source Database
DisGeNET
Description
α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson's disease and multiple system atrophy?
Pubmed
23404372
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0244371569654814
Year of publication
2013
Drugs