Annotation Detail
Information
- Associated Genes
- ADAMTS13
- Associated Variants
-
ADAMTS13 p.His96Asp (p.H96D)
(
ENST00000355699.7,
ENST00000356589.6,
ENST00000371911.7,
ENST00000371916.5,
ENST00000371929.7 )
ADAMTS13 p.Arg102Cys (p.R102C) ( ENST00000355699.7, ENST00000356589.6, ENST00000371911.7, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Arg398His (p.R398H) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Arg528Gly (p.R528G) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Arg692Cys (p.R692C) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Cys951Gly (p.C951G) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Cys1024Gly (p.C1024G) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Cys1213Tyr (p.C1213Y) ( ENST00000355699.7, ENST00000356589.6, ENST00000371910.1, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.His96Asp (p.H96D) ( ENST00000355699.7, ENST00000356589.6, ENST00000371911.7, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Arg102Cys (p.R102C) ( ENST00000355699.7, ENST00000356589.6, ENST00000371911.7, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Arg398His (p.R398H) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Arg528Gly (p.R528G) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Arg692Cys (p.R692C) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Cys951Gly (p.C951G) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Cys1024Gly (p.C1024G) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Cys1213Tyr (p.C1213Y) ( ENST00000355699.7, ENST00000356589.6, ENST00000371910.1, ENST00000371916.5, ENST00000371929.7 ) - Associated Disease
- Congenital Thrombotic Thrombocytopenic Purpura
- Source Database
- DisGeNET
- Description
- We show that deficiency of ADAMTS13 is the molecular mechanism responsible for TTP, and suggest that physiologic proteolysis of VWF and/or other ADAMTS13 substrates is required for normal vascular homeostasis.
- Pubmed
- 11586351
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.453224706861814
- Year of publication
- 2001
Drugs