Annotation Detail
Information
- Associated Genes
- ADAMTS13
- Associated Variants
-
ADAMTS13 p.Arg1060Trp (p.R1060W)
(
ENST00000355699.7,
ENST00000356589.6,
ENST00000371916.5,
ENST00000371929.7 )
ADAMTS13 p.Arg1123Cys (p.R1123C) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Arg1219Trp (p.R1219W) ( ENST00000355699.7, ENST00000356589.6, ENST00000371910.1, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Arg1060Trp (p.R1060W) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Arg1123Cys (p.R1123C) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Arg1219Trp (p.R1219W) ( ENST00000355699.7, ENST00000356589.6, ENST00000371910.1, ENST00000371916.5, ENST00000371929.7 ) - Associated Disease
- Congenital Thrombotic Thrombocytopenic Purpura
- Source Database
- DisGeNET
- Description
- We investigated the spectrum of ADAMTS13 gene mutations in patients with TTP and congenital ADAMTS13 deficiency to establish the consequences on ADAMTS13 processing and activity.
- Pubmed
- 17003922
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.453224706861814
- Year of publication
- 2006
Drugs