|
ADAMTS13
|
Congenital Thrombotic Thrombocytopenic Purpura
|
0.800 |
CausalMutation |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
|
ADAMTS13
|
Congenital Thrombotic Thrombocytopenic Purpura
|
0.800 |
GeneticVariation |
CLINVAR |
Next-Generation Sequencing and In Vitro Expression Study of ADAMTS13 Single Nucleotide Variants in Deep Vein Thrombosis.
|
27802307 |
2016 |
|
ADAMTS13
|
Congenital Thrombotic Thrombocytopenic Purpura
|
0.800 |
GeneticVariation |
CLINVAR |
Genetic variants in the ADAMTS13 and SUPT3H genes are associated with ADAMTS13 activity.
|
25934476 |
2015 |
|
ADAMTS13
|
Congenital Thrombotic Thrombocytopenic Purpura
|
0.800 |
GeneticVariation |
CLINVAR |
Incidence of obstetrical thrombotic thrombocytopenic purpura in a retrospective study within thrombocytopenic pregnant women. A difficult diagnosis and a treatable disease.
|
26081109 |
2015 |
|
ADAMTS13
|
Congenital Thrombotic Thrombocytopenic Purpura
|
0.800 |
GeneticVariation |
CLINVAR |
The novel ADAMTS13-p.D187H mutation impairs ADAMTS13 activity and secretion and contributes to thrombotic thrombocytopenic purpura in mice.
|
25442981 |
2015 |
|
ADAMTS13
|
Congenital Thrombotic Thrombocytopenic Purpura
|
0.800 |
GeneticVariation |
CLINVAR |
Next-generation sequencing study finds an excess of rare, coding single-nucleotide variants of ADAMTS13 in patients with deep vein thrombosis.
|
23648131 |
2013 |
|
ADAMTS13
|
Congenital Thrombotic Thrombocytopenic Purpura
|
0.800 |
CausalMutation |
CLINVAR |
Residual plasmatic activity of ADAMTS13 is correlated with phenotype severity in congenital thrombotic thrombocytopenic purpura.
|
22529288 |
2012 |
|
ADAMTS13
|
Congenital Thrombotic Thrombocytopenic Purpura
|
0.800 |
GeneticVariation |
CLINVAR |
Polymorphisms and mutations of ADAMTS13 in the Japanese population and estimation of the number of patients with Upshaw-Schulman syndrome.
|
21676167 |
2011 |
|
ADAMTS13
|
Congenital Thrombotic Thrombocytopenic Purpura
|
0.800 |
GeneticVariation |
CLINVAR |
The ADAMTS13 metalloprotease domain: roles of subsites in enzyme activity and specificity.
|
20647566 |
2010 |
|
ADAMTS13
|
Congenital Thrombotic Thrombocytopenic Purpura
|
0.800 |
GeneticVariation |
CLINVAR |
A functional calcium-binding site in the metalloprotease domain of ADAMTS13.
|
19047683 |
2009 |
|
ADAMTS13
|
Congenital Thrombotic Thrombocytopenic Purpura
|
0.800 |
CausalMutation |
CLINVAR |
Prevalence of the ADAMTS-13 missense mutation R1060W in late onset adult thrombotic thrombocytopenic purpura.
|
18031293 |
2008 |
|
ADAMTS13
|
Congenital Thrombotic Thrombocytopenic Purpura
|
0.800 |
GeneticVariation |
CLINVAR |
Congenital thrombotic thrombocytopenic purpura associated with unilateral moyamoya disease.
|
18481107 |
2008 |
|
ADAMTS13
|
Congenital Thrombotic Thrombocytopenic Purpura
|
0.800 |
GeneticVariation |
CLINVAR |
ADAMTS13 phenotype in plasma from normal individuals and patients with thrombotic thrombocytopenic purpura.
|
17187257 |
2007 |
|
ADAMTS13
|
Congenital Thrombotic Thrombocytopenic Purpura
|
0.800 |
GeneticVariation |
CLINVAR |
Podocytes express ADAMTS13 in normal renal cortex and in patients with thrombotic thrombocytopenic purpura.
|
17627784 |
2007 |
|
ADAMTS13
|
Congenital Thrombotic Thrombocytopenic Purpura
|
0.800 |
CausalMutation |
CLINVAR |
A common origin of the 4143insA ADAMTS13 mutation.
|
16807643 |
2006 |
|
ADAMTS13
|
Congenital Thrombotic Thrombocytopenic Purpura
|
0.800 |
CausalMutation |
CLINVAR |
Mutations throughout the ADAMTS13 gene have been identified in congenital TTP patients, most of whom have initial episodes during infancy or in early childhood.
|
16796708 |
2006 |
|
ADAMTS13
|
Congenital Thrombotic Thrombocytopenic Purpura
|
0.800 |
GeneticVariation |
CLINVAR |
Mechanisms of the interaction between two ADAMTS13 gene mutations leading to severe deficiency of enzymatic activity.
|
16453338 |
2006 |
|
ADAMTS13
|
Congenital Thrombotic Thrombocytopenic Purpura
|
0.800 |
GeneticVariation |
CLINVAR |
Complement factor H mutation in familial thrombotic thrombocytopenic purpura with ADAMTS13 deficiency and renal involvement.
|
15800115 |
2005 |
|
ADAMTS13
|
Congenital Thrombotic Thrombocytopenic Purpura
|
0.800 |
GeneticVariation |
CLINVAR |
Identification of novel mutations in ADAMTS13 in an adult patient with congenital thrombotic thrombocytopenic purpura.
|
15126318 |
2004 |
|
ADAMTS13
|
Congenital Thrombotic Thrombocytopenic Purpura
|
0.800 |
GeneticVariation |
CLINVAR |
Taken together with the findings in our recent report we determined the responsible mutations in a total of 7 Japanese patients with USS with a uniform clinical picture of severe neonatal hyperbilirubinemia, and in their family members, based on ADAMTS13 gene analysis.
|
14563640 |
2004 |
|
ADAMTS13
|
Congenital Thrombotic Thrombocytopenic Purpura
|
0.800 |
GeneticVariation |
CLINVAR |
Mutation analysis and clinical implications of von Willebrand factor-cleaving protease deficiency.
|
12753286 |
2003 |
|
ADAMTS13
|
Congenital Thrombotic Thrombocytopenic Purpura
|
0.800 |
GeneticVariation |
CLINVAR |
ADAMTS 13 genotype and vWF protease activity in an Italian family with TTP.
|
14597993 |
2003 |
|
ADAMTS13
|
Purpura, Thrombotic Thrombocytopenic
|
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
ADAMTS13
|
Hemolytic-Uremic Syndrome
|
0.200 |
Biomarker |
HPO |
|
|
|
|
ADAMTS13
|
Thrombocytopenia
|
0.200 |
Biomarker |
HPO |
|
|
|