Annotation Detail

Information
Associated Genes
UNC13A
Associated Variants
UNC13A c.2473-324T>G ( ENST00000519716.7, ENST00000550896.1, ENST00000551649.5, ENST00000552293.5 )
UNC13A c.2473-324T>G ( ENST00000519716.7, ENST00000550896.1, ENST00000551649.5, ENST00000552293.5 )
Associated Disease
amyotrophic lateral sclerosis
Source Database
DisGeNET
Description
The common variant rs12608932, located within an intron of UNC13A gene on chromosome 19p13.3, has been suggested to influence susceptibility to amyotrophic lateral sclerosis (ALS), as well as survival, in patients of north European descent.
Pubmed
22921269
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.366091273317606
Year of publication
2013
Drugs