Annotation Detail
Information
- Associated Genes
- ADAMTS13
- Associated Variants
-
ADAMTS13 p.Ile79Met (p.I79M)
(
ENST00000355699.7,
ENST00000356589.6,
ENST00000371911.7,
ENST00000371916.5,
ENST00000371929.7 )
ADAMTS13 p.Ser203Pro (p.S203P) ( ENST00000355699.7, ENST00000356589.6, ENST00000371911.7, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Arg268Pro (p.R268P) ( ENST00000355699.7, ENST00000356589.6, ENST00000371911.7, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Ala596Val (p.A596V) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Cys758Arg (p.C758R) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Cys908Tyr (p.C908Y) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Cys908Ser (p.C908S) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Ile79Met (p.I79M) ( ENST00000355699.7, ENST00000356589.6, ENST00000371911.7, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Ser203Pro (p.S203P) ( ENST00000355699.7, ENST00000356589.6, ENST00000371911.7, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Arg268Pro (p.R268P) ( ENST00000355699.7, ENST00000356589.6, ENST00000371911.7, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Ala596Val (p.A596V) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Cys758Arg (p.C758R) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Cys908Tyr (p.C908Y) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Cys908Ser (p.C908S) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 ) - Associated Disease
- Congenital Thrombotic Thrombocytopenic Purpura
- Source Database
- DisGeNET
- Description
- Ten candidate ADAMTS13 mutations in six French families with congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome).
- Pubmed
- 15009458
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.453224706861814
- Year of publication
- 2004
Drugs