Disease: Congenital thrombotic disease, due to Protein C deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2930896
Disease: Congenital thrombotic disease, due to Protein C deficiency
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
CUI: C2930896
Disease: Congenital thrombotic disease, due to Protein C deficiency
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
CUI: C2930896
Disease: Congenital thrombotic disease, due to Protein C deficiency
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