Annotation Detail
Information
- Associated Genes
- MMP3
- Associated Variants
-
MMP12 INSERTION
MMP12 INSERTION
MMP12 INSERTION
MMP12 INSERTION
RNF213 p.Arg4859Lys (p.R4859K) ( ENST00000582970.6, ENST00000508628.6 )
RNF213 p.Arg4859Thr (p.R4859T) ( ENST00000508628.6, ENST00000582970.6 )
rs3828610
RNF213 p.Arg4859Lys (p.R4859K) ( ENST00000508628.6, ENST00000582970.6 )
RNF213 p.Arg4859Thr (p.R4859T) ( ENST00000508628.6, ENST00000582970.6 )
rs3828610 - Associated Disease
- Moyamoya disease
- Source Database
- DisGeNET
- Description
- MDR analysis failed to detect any significant interaction among these five loci in the occurrence of MMD (P>0.05), but the combination of three loci (rs112735431 in RNF213, rs3828610 in PDGFRB, rs3025058 in MMP-3) could have the maximum testing accuracy (57.29%) and cross-validation consistency (10/10).
- Pubmed
- 23769926
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00290991572276264
- Year of publication
- 2013
Drugs