Annotation Detail
Information
- Associated Genes
- GOLGB1
- Associated Variants
-
GOLGB1 p.Tyr1217Cys (p.Y1217C)
(
ENST00000340645.10,
ENST00000393667.8,
ENST00000494517.6,
ENST00000614479.5 )
ENPP1 p.Lys173Gln (p.K173Q) ( ENST00000647893.1 )
GOLGB1 p.Tyr1217Cys (p.Y1217C) ( ENST00000340645.10, ENST00000393667.8, ENST00000494517.6, ENST00000614479.5 )
ENPP1 p.Lys173Gln (p.K173Q) ( ENST00000647893.1 ) - Associated Disease
- Cerebrovascular accident
- Source Database
- DisGeNET
- Description
- One mutation in GOLGB1 (Y1212C) and another mutation in ENPP1 (K173Q) were confirmed as having significant associations with a decreased risk for stroke.
- Pubmed
- 23422753
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2013
Drugs