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
- Source Database
- DisGeNET
- Description
- The moyamoya disease susceptibility variant RNF213 R4810K (rs112735431) induces genomic instability by mitotic abnormality.
- Pubmed
- 23994138
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.247524427548128
- Year of publication
- 2013
Drugs