Disease: Congenital Thrombotic Thrombocytopenic Purpura ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908469
rs121908469
Entrez Id: 11093
Gene Symbol: ADAMTS13
ADAMTS13
CUI: C1268935
Disease:
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 GeneticVariation UNIPROT A novel homozygous missense ADAMTS13 mutation Y658C in a patient with recurrent thrombotic thrombocytopenic purpura. 22075512 2011
dbSNP: rs121908469
rs121908469
Entrez Id: 11093
Gene Symbol: ADAMTS13
ADAMTS13
CUI: C1268935
Disease:
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 GeneticVariation UNIPROT Pregnancy-induced thrombocytopenia and TTP, and the risk of fetal death, in Upshaw-Schulman syndrome: a series of 15 pregnancies in 9 genotyped patients. 19055667 2009
dbSNP: rs121908469
rs121908469
Entrez Id: 11093
Gene Symbol: ADAMTS13
ADAMTS13
CUI: C1268935
Disease:
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 GeneticVariation UNIPROT The first deletion mutation in the TSP1-6 repeat domain of ADAMTS13 in a family with inherited thrombotic thrombocytopenic purpura. 19116307 2009
dbSNP: rs121908469
rs121908469
Entrez Id: 11093
Gene Symbol: ADAMTS13
ADAMTS13
CUI: C1268935
Disease:
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 GeneticVariation UNIPROT A first case of congenital TTP on the African continent due to a new homozygous mutation in the catalytic domain of ADAMTS13. 18443791 2008
dbSNP: rs121908469
rs121908469
Entrez Id: 11093
Gene Symbol: ADAMTS13
ADAMTS13
CUI: C1268935
Disease:
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 GeneticVariation UNIPROT A common origin of the 4143insA ADAMTS13 mutation. 16807643 2006
dbSNP: rs121908469
rs121908469
Entrez Id: 11093
Gene Symbol: ADAMTS13
ADAMTS13
CUI: C1268935
Disease:
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 GeneticVariation UNIPROT Modulation of ADAMTS13 secretion and specific activity by a combination of common amino acid polymorphisms and a missense mutation. 16160007 2006
dbSNP: rs121908469
rs121908469
Entrez Id: 11093
Gene Symbol: ADAMTS13
ADAMTS13
CUI: C1268935
Disease:
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 GeneticVariation UNIPROT Novel compound heterozygote mutations (H234Q/R1206X) of the ADAMTS13 gene in an adult patient with Upshaw-Schulman syndrome showing predominant episodes of repeated acute renal failure. 16449289 2006
dbSNP: rs121908469
rs121908469
Entrez Id: 11093
Gene Symbol: ADAMTS13
ADAMTS13
CUI: C1268935
Disease:
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 GeneticVariation UNIPROT Mechanisms of the interaction between two ADAMTS13 gene mutations leading to severe deficiency of enzymatic activity. 16453338 2006
dbSNP: rs121908469
rs121908469
Entrez Id: 11093
Gene Symbol: ADAMTS13
ADAMTS13
CUI: C1268935
Disease:
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 GeneticVariation UNIPROT In-vitro and in-vivo consequences of mutations in the von Willebrand factor cleaving protease ADAMTS13 in thrombotic thrombocytopenic purpura. 17003922 2006
dbSNP: rs121908469
rs121908469
Entrez Id: 11093
Gene Symbol: ADAMTS13
ADAMTS13
CUI: C1268935
Disease:
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 GeneticVariation UNIPROT Novel ADAMTS-13 mutations in an adult with delayed onset thrombotic thrombocytopenic purpura. 16796708 2006
dbSNP: rs121908469
rs121908469
Entrez Id: 11093
Gene Symbol: ADAMTS13
ADAMTS13
CUI: C1268935
Disease:
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 GeneticVariation UNIPROT Congenital thrombotic thrombocytopenic purpura in association with a mutation in the second CUB domain of ADAMTS13. 14512317 2004
dbSNP: rs121908469
rs121908469
Entrez Id: 11093
Gene Symbol: ADAMTS13
ADAMTS13
CUI: C1268935
Disease:
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 GeneticVariation UNIPROT Two novel ADAMTS13 gene mutations in thrombotic thrombocytopenic purpura/hemolytic-uremic syndrome (TTP/HUS). 15327386 2004
dbSNP: rs121908469
rs121908469
Entrez Id: 11093
Gene Symbol: ADAMTS13
ADAMTS13
CUI: C1268935
Disease:
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 GeneticVariation UNIPROT Ten candidate ADAMTS13 mutations in six French families with congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome). 15009458 2004
dbSNP: rs121908469
rs121908469
Entrez Id: 11093
Gene Symbol: ADAMTS13
ADAMTS13
CUI: C1268935
Disease:
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 GeneticVariation UNIPROT Molecular characterization of ADAMTS13 gene mutations in Japanese patients with Upshaw-Schulman syndrome. 14563640 2004
dbSNP: rs121908469
rs121908469
Entrez Id: 11093
Gene Symbol: ADAMTS13
ADAMTS13
CUI: C1268935
Disease:
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 GeneticVariation UNIPROT Identification of novel mutations in ADAMTS13 in an adult patient with congenital thrombotic thrombocytopenic purpura. 15126318 2004
dbSNP: rs121908469
rs121908469
Entrez Id: 11093
Gene Symbol: ADAMTS13
ADAMTS13
CUI: C1268935
Disease:
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 GeneticVariation UNIPROT Mutation analysis and clinical implications of von Willebrand factor-cleaving protease deficiency. 12753286 2003
dbSNP: rs121908469
rs121908469
Entrez Id: 11093
Gene Symbol: ADAMTS13
ADAMTS13
CUI: C1268935
Disease:
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 GeneticVariation UNIPROT von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP. 12393505 2003
dbSNP: rs121908469
rs121908469
Entrez Id: 11093
Gene Symbol: ADAMTS13
ADAMTS13
CUI: C1268935
Disease:
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 GeneticVariation UNIPROT ADAMTS13 gene defects in two brothers with constitutional thrombotic thrombocytopenic purpura and normalization of von Willebrand factor-cleaving protease activity by recombinant human ADAMTS13. 12614216 2003
dbSNP: rs121908469
rs121908469
Entrez Id: 11093
Gene Symbol: ADAMTS13
ADAMTS13
CUI: C1268935
Disease:
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 GeneticVariation UNIPROT Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity. 12181489 2002
dbSNP: rs121908469
rs121908469
Entrez Id: 11093
Gene Symbol: ADAMTS13
ADAMTS13
CUI: C1268935
Disease:
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 GeneticVariation UNIPROT Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. 11586351 2001
dbSNP: rs121908469
rs121908469
Entrez Id: 11093
Gene Symbol: ADAMTS13
ADAMTS13
CUI: C1268935
Disease:
Congenital Thrombotic Thrombocytopenic Purpura 		T 0.800 CausalMutation CLINVAR