rs11575933, ADAMTS13

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital Thrombotic Thrombocytopenic Purpura
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
0.700 CausalMutation CLINVAR
Purpura, Thrombotic Thrombocytopenic
CUI: C0034155
Disease: Purpura, Thrombotic Thrombocytopenic
0.010 GeneticVariation BEFREE The moderate activity of ADAMTS-13-P475S for shear-treated VWF is sufficient to prevent thrombotic thrombocytopenic purpura (TTP) onset. 23621748 2013
Fever
CUI: C0015967
Disease: Fever
0.010 GeneticVariation BEFREE This explains the higher susceptibility of the enzymatic activity of MDTCS-P475S to reaction environments such as denaturants and high temperature. 23621748 2013