Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085650
Disease: Purpura Fulminans
Purpura Fulminans
0.370 AlteredExpression disease BEFREE Considering that congenital or acquired deficiencies of PC are associated with purpura fulminans, we hypothesized that a defect in the activation of PC following meningococcal adhesion to microvessels is responsible for the thrombotic events observed during meningococcemia. 29630665 2018
CUI: C0085650
Disease: Purpura Fulminans
Purpura Fulminans
0.370 GeneticVariation disease BEFREE In this study, we identified a genetic defect in the PROC gene leading to neonatal purpura fulminans. 29356699 2018
CUI: C0085650
Disease: Purpura Fulminans
Purpura Fulminans
0.370 GeneticVariation disease BEFREE Infants with biallelic PROC mutations present purpura fulminans and intracranial thromboembolism, while the prenatal onset of mutated heterozygotes remains unclear. 26250584 2016
CUI: C0085650
Disease: Purpura Fulminans
Purpura Fulminans
0.370 GeneticVariation disease BEFREE In this report, we describe a newborn who presented with purpura fulminans and DIC, molecular analysis showed a novel c.1048A>T transversion in a homozygous state at codon 350 (Lys>Stop) of protein C (PROC) gene. 24158118 2013
CUI: C0085650
Disease: Purpura Fulminans
Purpura Fulminans
0.370 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: C0085650
Disease: Purpura Fulminans
Purpura Fulminans
0.370 Biomarker disease BEFREE At the end of the APC infusion all skin lesions of PF were resolved.There were no adverse reactions to APC. 14707707 2004
CUI: C0085650
Disease: Purpura Fulminans
Purpura Fulminans
0.370 GeneticVariation disease BEFREE A case of purpura fulminans is caused by homozygous delta8857 mutation (protein C-nagoya) and successfully treated with activated protein C concentrate. 10997987 2000
CUI: C0085650
Disease: Purpura Fulminans
Purpura Fulminans
0.370 GeneticVariation disease BEFREE A homozygous deletion/insertion mutation in the protein C (PROC) gene causing neonatal Purpura fulminans: prenatal diagnosis in an at-risk pregnancy. 7841323 1994