Annotation Detail
Information
- Associated Genes
- RNF213
- Associated Variants
-
RNF213 p.Arg4859Lys (p.R4859K)
(
ENST00000582970.6,
ENST00000508628.6 )
RNF213 p.Arg4859Thr (p.R4859T) ( ENST00000508628.6, ENST00000582970.6 )
RNF213 p.Arg4859Lys (p.R4859K) ( ENST00000508628.6, ENST00000582970.6 )
RNF213 p.Arg4859Thr (p.R4859T) ( ENST00000508628.6, ENST00000582970.6 ) - Associated Disease
- Moyamoya disease 1
- Source Database
- DisGeNET
- Description
- Distribution of moyamoya disease susceptibility polymorphism p.R4810K in RNF213 in East and Southeast Asian populations.
- Pubmed
- 22688066
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.124885953697445
- Year of publication
- 2012
Drugs