Annotation Detail
Information
- Associated Genes
- ADAMTS13
- Associated Variants
-
ADAMTS13 p.Arg1060Trp (p.R1060W)
(
ENST00000355699.7,
ENST00000356589.6,
ENST00000371916.5,
ENST00000371929.7 )
ADAMTS13 p.Arg1060Trp (p.R1060W) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 ) - Associated Disease
- Purpura, Thrombotic Thrombocytopenic
- Source Database
- DisGeNET
- Description
- Prevalence of the ADAMTS-13 missense mutation R1060W in late onset adult thrombotic thrombocytopenic purpura.
- Pubmed
- 18031293
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.226848998899042
- Year of publication
- 2008
Drugs