Disease: Protein C Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency 		0.800 AlteredExpression disease BEFREE Thrombomodulin is an endothelial cell surface glycoprotein that inhibits the procoagulant activities of thrombin and accelerates activation of the anticoagulant protein C. Because protein C deficiency is associated with cutaneous thrombosis, we investigated the expression of thrombomodulin in human skin. 8163684 1994
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency 		0.800 AlteredExpression disease BEFREE The coagulopathy in protein C deficiency is caused by impaired inactivation of factors Va and VIIIa by activated protein C after the propagation phase of coagulation activation. 19141162 2008
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency 		0.800 Biomarker disease BEFREE Three novel PROC gene lesions causing protein C deficiency. 9788727 1998
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency 		0.800 Biomarker disease BEFREE Both activated protein C (APC) resistance and protein C deficiency are associated with an increased risk for venous thrombosis. 8943855 1996
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency 		0.800 AlteredExpression disease BEFREE Because plasma protein S serves as a cofactor for the anticoagulant activity of activated protein C and because protein C deficiency is associated with recurrent thrombotic disease, it is suggested that recurrent thrombotic disease in this family is the result of an inherited deficiency of protein S. 6238642 1984
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency 		0.800 GeneticVariation disease BEFREE A structural model of the protease domain of mutant activated protein C was constructed by the chimeric modelling method, and the resultant model suggested conformational changes due to each missense mutation identified in protein C deficiency. 7865674 1994
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency 		0.800 GeneticVariation disease BEFREE Homozygosity for R87H missense mutation and for a rare intron 7 DNA variant (7054G --> A) in the PROC genes of three siblings initially classified as heterozygotes for protein C deficiency. 8845458 1996
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency 		0.800 GeneticVariation disease BEFREE A novel homozygous mutation in the protein C (PROC) gene was detected in an individual with severe type I protein C deficiency who presented with neonatal Purpura fulminans. 7841323 1994
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency 		0.800 Biomarker disease BEFREE The fusion protein recapitulates the functional and structural properties of the thrombin-thrombomodulin complex, prolongs the clotting time by generating pharmacological quantities of activated protein C and effectively diagnoses protein C deficiency in human plasma. 28294177 2017
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency 		0.800 GeneticVariation disease BEFREE A Gla domain mutation (Arg 15-->Trp) in the protein C (PROC) gene causing type 2 protein C deficiency and recurrent venous thrombosis. 8499568 1993
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency 		0.800 GeneticVariation disease BEFREE Severe type I protein C deficiency in a compound heterozygote for Y124C and Q132X mutations in exon 6 of the PROC gene. 8607097 1995
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency 		0.800 GeneticVariation disease BEFREE The authors report the use of recombinant activated protein C (APC) to treat an episode of purpura fulminans (PF) in a teenage girl with severe protein C deficiency who had developed anaphylaxis to fresh-frozen plasma that was given in the past to treat recurrent episodes of PF. 14707707 2004
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency 		0.800 GeneticVariation disease BEFREE Our report lengthens the list of male acroangiodermatitis of Mali cases with a Chinese patient harboring a novel PROC mutation with manifest protein C deficiency. 22441373 2012
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency 		0.800 GeneticVariation disease BEFREE The patient was diagnosed to be homozygous for protein C deficiency and was treated with an activated protein C (APC) concentrate. 10997987 2000
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency 		0.800 GeneticVariation disease BEFREE Taken together, R147W mutation is a significant thrombotic risk factor and is the most common defect of PROC gene in Taiwanese patients with protein C deficiency. 15114590 2004
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency 		0.800 GeneticVariation disease BEFREE The protein C (PROC) genes of nine unrelated individuals with severe protein C deficiency were sequenced yielding a total of 13 different lesions. 10942114 2000
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency 		0.800 GeneticVariation disease BEFREE In a Danish population, a PROC gene variant was identified in 67% of participants previously diagnosed with protein C deficiency.Five variants were novel. 31821907 2020
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency 		0.800 GeneticVariation disease BEFREE Ectopic transcript analysis indicates that allelic exclusion is an important cause of type I protein C deficiency in patients with nonsense and frameshift mutations in the PROC gene. 8822578 1996
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency 		0.800 GeneticVariation disease BEFREE A molecular model of the serine protease domain of activated protein C: application to the study of missense mutations causing protein C deficiency. 8398833 1993
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency 		0.800 GeneticVariation disease CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency 		0.800 Therapeutic disease CTD_human Late onset of clinical symptoms and recurrent ecchymotic skin lesions in a 12-year-old girl with a severe double heterozygous protein C deficiency. 14707701 2004
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency 		0.800 Biomarker disease CTD_human Late onset of clinical symptoms and recurrent ecchymotic skin lesions in a 12-year-old girl with a severe double heterozygous protein C deficiency. 14707701 2004
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency 		0.800 Biomarker disease CTD_human Severe congenital protein C deficiency: description of a new mutation and prophylactic protein C therapy and in vivo pharmacokinetics. 18376272 2008
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency 		0.800 Therapeutic disease CTD_human Severe congenital protein C deficiency: description of a new mutation and prophylactic protein C therapy and in vivo pharmacokinetics. 18376272 2008
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency 		0.800 Biomarker disease CTD_human Zymogen Protein C to prevent clotting without bleeding during invasive medical procedures. 21445774 2011