Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0272285
Disease: Heparin-induced thrombocytopenia
Heparin-induced thrombocytopenia
0.010 GeneticVariation disease BEFREE The patient, her mother, and her brother were found to have resistance to activated protein C (APC), and the congenital thrombophilia in this family was verified by the finding of the Arg506 Gln mutation in factor V. This is the first case of HIT and APC resistance. 7485105 1995