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 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 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 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 GermlineCausalMutation disease ORPHANET Protein C deficiency as the major cause of thrombophilias in childhood. 23521084 2013
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 Biomarker disease CTD_human Zymogen Protein C to prevent clotting without bleeding during invasive medical procedures. 21445774 2011
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency 		0.800 Therapeutic disease CTD_human Zymogen Protein C to prevent clotting without bleeding during invasive medical procedures. 21445774 2011
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency 		0.800 GeneticVariation disease LHGDN Activated protein C concentrate treatment for skin necrosis under warfarin treatment in severe genetic protein C deficiency combined with prothrombin mutation and factor V Leiden. 19190829 2009
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 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 GeneticVariation disease LHGDN 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 GeneticVariation disease LHGDN Severe protein C deficiency from compound heterozygous mutations in the PROC gene in two Korean adult patients. 18573519 2008
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 GeneticVariation disease LHGDN 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 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 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 AlteredExpression disease LHGDN Protein C pathway impairment in nonsymptomatic cigarette smokers. 12482406 2003
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 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 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 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 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