Disease: Congenital Thrombotic Thrombocytopenic Purpura ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 AlteredExpression disease BEFREE Thus, USS and vWF-CPase activity appear to be coinherited as autosomal recessive traits. 11530798 2001
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 AlteredExpression disease BEFREE Deficient activity of von Willebrand factor-cleaving protease in patients with Upshaw-Schulman syndrome. 11530799 2001
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 GeneticVariation disease UNIPROT Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. 11586351 2001
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 Biomarker disease GENOMICS_ENGLAND Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. 11586351 2001
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 Biomarker disease BEFREE Von Willebrand factor-cleaving protease and Upshaw-Schulman syndrome. 11843286 2002
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 Biomarker disease BEFREE ADAMTS13 and TTP. 12172456 2002
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 GeneticVariation disease UNIPROT Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity. 12181489 2002
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 GeneticVariation disease UNIPROT von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP. 12393505 2003
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 GeneticVariation disease BEFREE von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP. 12393505 2003
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 AlteredExpression disease BEFREE A case of congenital TTP that was previously reported to have normal ADAMTS13 activity was analyzed at the molecular level. 12576319 2003
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 GeneticVariation disease 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
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 Biomarker disease BEFREE A subgroup of pediatric patients with atypical (d-) HUS, with hematologic symptoms starting at birth and a recurrent course progressively involving kidney and brain, is related to VWF-cp deficiency and actually corresponds to Upshaw-Schulman syndrome revisited as congenital TTP. 12640381 2003
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 AlteredExpression disease BEFREE The cloning of the ADAMTS13 gene has also raised the prospect of recombinant enzyme therapy for the treatment of TTP, and this has heightened the need for a simple assay. 12656756 2003
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 Biomarker disease CTD_human The cloning of the ADAMTS13 gene has also raised the prospect of recombinant enzyme therapy for the treatment of TTP, and this has heightened the need for a simple assay. 12656756 2003
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 GeneticVariation disease CLINVAR Mutation analysis and clinical implications of von Willebrand factor-cleaving protease deficiency. 12753286 2003
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 GeneticVariation disease UNIPROT Mutation analysis and clinical implications of von Willebrand factor-cleaving protease deficiency. 12753286 2003
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 Biomarker disease GENOMICS_ENGLAND Mutation analysis and clinical implications of von Willebrand factor-cleaving protease deficiency. 12753286 2003
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 GeneticVariation disease BEFREE Several mutations spread across the ADAMTS13 gene have been identified in association with a deficiency of VWF-cleaving proteinase activity in patients with congenital TTP. 14512317 2004
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 GeneticVariation disease UNIPROT Several mutations spread across the ADAMTS13 gene have been identified in association with a deficiency of VWF-cleaving proteinase activity in patients with congenital TTP. 14512317 2004
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 GeneticVariation disease BEFREE Molecular characterization of ADAMTS13 gene mutations in Japanese patients with Upshaw-Schulman syndrome. 14563640 2004
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 GeneticVariation disease UNIPROT 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
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 GeneticVariation disease 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
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 GeneticVariation disease CLINVAR ADAMTS 13 genotype and vWF protease activity in an Italian family with TTP. 14597993 2003