Annotation Detail
Information
- Associated Genes
- VWF
- Associated Variants
-
ADAMTS13 p.Pro475Ser (p.P475S)
(
ENST00000355699.7,
ENST00000356589.6,
ENST00000371916.5,
ENST00000371929.7 )
ADAMTS13 p.Pro475Ser (p.P475S) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 ) - Associated Disease
- Purpura, Thrombotic Thrombocytopenic
- Source Database
- DisGeNET
- Description
- The moderate activity of ADAMTS-13-P475S for shear-treated VWF is sufficient to prevent thrombotic thrombocytopenic purpura (TTP) onset.
- Pubmed
- 23621748
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0190108625672854
- Year of publication
- 2013
Drugs