KNG1, kininogen 1, 3827

N. diseases: 279; N. variants: 24
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
High molecular weight kininogen deficiency
0.770 Biomarker disease BEFREE Remarkably, kininogen deficiency did not modify HDM-induced eosinophil/neutrophil influx, T helper 2 responses, mucus production, or lung pathology. kininogen ASO treatment started after HDM sensitization reduced plasma kininogen levels by 75% and reproduced the phenotype of kininogen deficiency: kininogen ASO administration prevented the HDM-induced increase in Penh without influencing leukocyte influx, Th2 responses, mucus production, or lung pathology. 30358441 2019
High molecular weight kininogen deficiency
0.770 Biomarker disease GENOMICS_ENGLAND Genome-wide association study with additional genetic and post-transcriptional analyses reveals novel regulators of plasma factor XI levels. 28053049 2017
High molecular weight kininogen deficiency
0.770 GermlineCausalMutation disease ORPHANET Isolated high-molecular-weight kininogen deficiency: a novel frameshift mutation in exon 10. 17522339 2007
High molecular weight kininogen deficiency
0.770 Biomarker disease BEFREE Characterization of molecular defects of Fitzgerald trait and another novel high-molecular-weight kininogen-deficient patient: insights into structural requirements for kininogen expression. 12576314 2003
High molecular weight kininogen deficiency
0.770 Biomarker disease GENOMICS_ENGLAND We conclude that a single base mutation in the kininogen gene exon 5 was responsible for kininogen deficiency in the Williams family. 7901207 1993
High molecular weight kininogen deficiency
0.770 GeneticVariation disease BEFREE We conclude that a single base mutation in the kininogen gene exon 5 was responsible for kininogen deficiency in the Williams family. 7901207 1993
High molecular weight kininogen deficiency
0.770 Biomarker disease BEFREE This case reports the first description of Fitzgerald factor (high molecular weight kininogen) deficiency in Australia. 3574180 1987
High molecular weight kininogen deficiency
0.770 Biomarker disease BEFREE Contents of coagulation factors in B/N Katholiek thus measured as well as the values of prekallikrein and HMW kininogen previously reported were summarized and suggested that B/N Katholiek rat could be similar deficiency as Fitzgerald trait. 6710438 1984
High molecular weight kininogen deficiency
0.770 Biomarker disease BEFREE Prekallikrein deficiency in a kindred with kininogen deficiency and Fitzgerald trait clotting defect. Evidence that high molecular weight kininogen and prekallikrein exist as a complex in normal human plasma. 893663 1977
High molecular weight kininogen deficiency
0.770 Biomarker disease BEFREE Kininogen deficiency in Fitzgerald trait: role of high molecular weight kininogen in clotting and fibrinolysis. 1245795 1976
High molecular weight kininogen deficiency
0.770 Biomarker disease CTD_human
High molecular weight kininogen deficiency
0.770 GeneticVariation disease CLINVAR
CUI: C0020429
Disease: Hyperalgesia
Hyperalgesia
0.560 AlteredExpression phenotype BEFREE Synergistic expression of cyclooxygenase-2 (COX-2) by interleukin-1β (IL-1β) and bradykinin (BK) in peri-sensory neurons results in the production of prostanoids, which affects sensory neuronal activity and responsiveness and causes hyperalgesia. 30528878 2019
CUI: C0020429
Disease: Hyperalgesia
Hyperalgesia
0.560 Biomarker phenotype BEFREE P2 × 7 receptor-induced articular hyperalgesia is sustained by the involvement of this purinergic receptor in bradykinin and dopamine-induced hyperalgesia in the knee joint. 29260240 2018
CUI: C0020429
Disease: Hyperalgesia
Hyperalgesia
0.560 Biomarker phenotype BEFREE Dexamethasone (glucocorticoid anti-inflammatory agent), DALBK (bradykinin B1 antagonist), Atenolol (β1 adrenoceptor antagonist), ICI 118,551 (β2 adrenoceptor antagonist), indomethacin (cyclooxygenase inhibitor), and fucoidan (non-specific selectin inhibitor) all reduced static contraction-induced muscle hyperalgesia; however, the bradykinin B2 antagonist, bradyzide, did not have an effect on static contraction-induced muscle hyperalgesia. 28673715 2017
CUI: C0020429
Disease: Hyperalgesia
Hyperalgesia
0.560 Biomarker phenotype BEFREE IS comprises an acidic combination of bradykinin, serotonin, histamine and prostaglandin PGE2 and was introduced to basic pain research as a tool to activate and sensitize peripheral nociceptors when studying pathological pain conditions associated with allodynia and hyperalgesia. 28167076 2017
CUI: C0020429
Disease: Hyperalgesia
Hyperalgesia
0.560 Biomarker phenotype BEFREE Inflammatory mediators such as prostaglandin-E2 or bradykinin cause hyperalgesia by activating cellular kinases that phosphorylate TRPV1, a process that has recently been shown to rely on a scaffolding protein, AKAP79, to target the kinases to TRPV1. 23699529 2013
CUI: C0020429
Disease: Hyperalgesia
Hyperalgesia
0.560 Biomarker phenotype BEFREE Heightened nociceptor function caused by inflammatory mediators such as bradykinin (BK) contributes to increased pain sensitivity (hyperalgesia) to noxious mechanical and thermal stimuli. 22921401 2012
CUI: C0020429
Disease: Hyperalgesia
Hyperalgesia
0.560 Biomarker phenotype CTD_human Sex differences in behavior and expression of CGRP-related genes in a rodent model of chronic migraine. 21521205 2011
CUI: C0020429
Disease: Hyperalgesia
Hyperalgesia
0.560 Biomarker phenotype RGD P2X3 and P2X2/3 receptors mediate mechanical hyperalgesia induced by bradykinin, but not by pro-inflammatory cytokines, PGE₂ or dopamine. 20868656 2010
CUI: C0020429
Disease: Hyperalgesia
Hyperalgesia
0.560 Biomarker phenotype CTD_human Evidence of TRPV1 receptor and PKC signaling pathway in the antinociceptive effect of amyrin octanoate. 19646975 2009
CUI: C0020429
Disease: Hyperalgesia
Hyperalgesia
0.560 Biomarker phenotype CTD_human Interaction of transient receptor potential vanilloid 4, integrin, and SRC tyrosine kinase in mechanical hyperalgesia. 18234883 2008
CUI: C0020429
Disease: Hyperalgesia
Hyperalgesia
0.560 Biomarker phenotype CTD_human In wild-type mice, activation of PKRs by the PKR agonist Bv8 caused hyperalgesia and sensitized to the actions of capsaicin. pkr1-null mice exhibited impaired responses to Bv8 but showed normal hyperalgesic responses to bradykinin and PGE2 (prostaglandin E2). 16793879 2006
CUI: C0020429
Disease: Hyperalgesia
Hyperalgesia
0.560 Biomarker phenotype CTD_human In addition, the ME of B. microstachya (3--300 mg kg(-1), i.p., 30 min earlier) inhibited, in a graded manner, the hyperalgesia induced by bradykinin (3.2 microg/paw), substance P (13.5 microg/paw), carrageenan (300 microg/paw), capsaicin (100 microg/paw) and adrenaline (100 ng/paw) in the rat paw, with mean ID50 values of 20.5, 17.9, 101.8, 54.2 and 99.7 mg kg(-1), respectively. 16259764 2005
CUI: C0020429
Disease: Hyperalgesia
Hyperalgesia
0.560 Biomarker phenotype CTD_human Antinociceptive properties of mixture of alpha-amyrin and beta-amyrin triterpenes: evidence for participation of protein kinase C and protein kinase A pathways. 15626726 2005