Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908470
rs121908470
ADAMTS13
0.810 GeneticVariation UNIPROT A novel homozygous missense ADAMTS13 mutation Y658C in a patient with recurrent thrombotic thrombocytopenic purpura. 22075512

2011
dbSNP: rs121908470
rs121908470
ADAMTS13
0.810 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: rs121908470
rs121908470
ADAMTS13
0.810 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: rs121908470
rs121908470
ADAMTS13
0.810 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: rs121908470
rs121908470
ADAMTS13
0.810 GeneticVariation UNIPROT Modulation of ADAMTS13 secretion and specific activity by a combination of common amino acid polymorphisms and a missense mutation. 16160007

2006
dbSNP: rs121908470
rs121908470
ADAMTS13
0.810 GeneticVariation UNIPROT A common origin of the 4143insA ADAMTS13 mutation. 16807643

2006
dbSNP: rs121908470
rs121908470
ADAMTS13
0.810 GeneticVariation UNIPROT Novel ADAMTS-13 mutations in an adult with delayed onset thrombotic thrombocytopenic purpura. 16796708

2006
dbSNP: rs121908470
rs121908470
ADAMTS13
0.810 GeneticVariation UNIPROT Mechanisms of the interaction between two ADAMTS13 gene mutations leading to severe deficiency of enzymatic activity. 16453338

2006
dbSNP: rs121908470
rs121908470
ADAMTS13
0.810 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: rs121908470
rs121908470
ADAMTS13
0.810 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: rs121908470
rs121908470
ADAMTS13
0.810 GeneticVariation UNIPROT Molecular characterization of ADAMTS13 gene mutations in Japanese patients with Upshaw-Schulman syndrome. 14563640

2004
dbSNP: rs121908470
rs121908470
ADAMTS13
0.810 GeneticVariation UNIPROT We have studied a patient with congenital TTP who is a compound heterozygote for the Thr196Ile mutation in the metalloproteinase domain and a frameshift mutation (4143-4144insA) in the second CUB domain that results in loss of the last 49 amino acids of the protein. 14512317

2004
dbSNP: rs121908470
rs121908470
ADAMTS13
0.810 GeneticVariation UNIPROT Ten candidate ADAMTS13 mutations in six French families with congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome). 15009458

2004
dbSNP: rs121908470
rs121908470
ADAMTS13
0.810 GeneticVariation BEFREE We have studied a patient with congenital TTP who is a compound heterozygote for the Thr196Ile mutation in the metalloproteinase domain and a frameshift mutation (4143-4144insA) in the second CUB domain that results in loss of the last 49 amino acids of the protein. 14512317

2004
dbSNP: rs121908470
rs121908470
ADAMTS13
0.810 GeneticVariation UNIPROT Identification of novel mutations in ADAMTS13 in an adult patient with congenital thrombotic thrombocytopenic purpura. 15126318

2004
dbSNP: rs121908470
rs121908470
ADAMTS13
0.810 GeneticVariation UNIPROT Two novel ADAMTS13 gene mutations in thrombotic thrombocytopenic purpura/hemolytic-uremic syndrome (TTP/HUS). 15327386

2004
dbSNP: rs121908470
rs121908470
ADAMTS13
0.810 GeneticVariation UNIPROT Mutation analysis and clinical implications of von Willebrand factor-cleaving protease deficiency. 12753286

2003
dbSNP: rs121908470
rs121908470
ADAMTS13
0.810 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: rs121908470
rs121908470
ADAMTS13
0.810 GeneticVariation UNIPROT von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP. 12393505

2003
dbSNP: rs121908470
rs121908470
ADAMTS13
0.810 GeneticVariation UNIPROT Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity. 12181489

2002
dbSNP: rs121908470
rs121908470
ADAMTS13
0.810 GeneticVariation UNIPROT Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. 11586351

2001
dbSNP: rs121908470
rs121908470
ADAMTS13
T 0.810 CausalMutation CLINVAR