Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Congenital thrombotic disease, due to Protein C deficiency
0.510 Biomarker disease CTD_human Compound heterozygous protein C deficiency in a family with venous thrombosis: Identification and in vitro study of p.Asp297His and p.Val420Leu mutations. 25748729 2015
Congenital thrombotic disease, due to Protein C deficiency
0.510 GermlineCausalMutation disease ORPHANET Protein C deficiency as the major cause of thrombophilias in childhood. 23521084 2013
Congenital thrombotic disease, due to Protein C deficiency
0.510 GeneticVariation disease BEFREE We report on a family with two cases of combined protein C (PROC) and protein S (PROS) deficiency, five cases of isolated PROC deficiency Type I, and two cases of isolated PROS deficiency Type I. PROC and PROS deficiency were documented by functional and immunologic tests. 11434940 2001