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
CUI: C0272340
Disease: High molecular weight kininogen deficiency
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
CUI: C0272340
Disease: High molecular weight kininogen deficiency
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
CUI: C0272340
Disease: High molecular weight kininogen deficiency
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
CUI: C0272340
Disease: High molecular weight kininogen deficiency
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
CUI: C0272340
Disease: High molecular weight kininogen deficiency
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
CUI: C0272340
Disease: High molecular weight kininogen deficiency
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
CUI: C0272340
Disease: High molecular weight kininogen deficiency
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
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 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 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 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 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 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: C0019243
Disease: Angioedemas, Hereditary
Angioedemas, Hereditary 		0.400 Biomarker disease BEFREE The kinins (primarily bradykinin, BK) represent the mediators responsible for local increase of vascular permeability in hereditary angioedema (HAE), HAE I-II associated with alterations of the SERPING1 gene and HAE with normal C1-Inhibitor function (HAE-nC1INH). 23940538 2013
CUI: C0019243
Disease: Angioedemas, Hereditary
Angioedemas, Hereditary 		0.400 Biomarker disease BEFREE A review was conducted of scientific papers on different types of bradykinin-induced angioedema (hereditary and acquired angioedema due to C1 inhibitor deficiency, hereditary angioedema related to estrogens, angioedema induced by angiotensin-converting enzyme inhibitors). 21905496 2011
CUI: C0019243
Disease: Angioedemas, Hereditary
Angioedemas, Hereditary 		0.400 Biomarker disease BEFREE Activation of bradykinin-mediated B2 receptor has been shown to play an important role in the onset of angioedema associated with C1 inhibitor deficiency. 19796797 2009
CUI: C0019243
Disease: Angioedemas, Hereditary
Angioedemas, Hereditary 		0.400 Biomarker disease BEFREE To perform serial assessment of abnormalities of the bradykinin-forming pathway and fibrinolysis in patients with HAE after treatment of episodes of swelling with intravenous C1-INH. 20143645 2010
CUI: C0019243
Disease: Angioedemas, Hereditary
Angioedemas, Hereditary 		0.400 Biomarker disease BEFREE Despite the efficacy of the on-demand treatment for the control of acute attacks of Hereditary Angioedema due to C1-Inhibitor Deficiency (C1-INH-HAE), the number and severity of attacks and the impairment in the quality of life of the affected patients have led to the development of a new monoclonal antibody, lanadelumab, directly addressed to the blockage of bradykinin, the principal mediator of vasodilation during angioedema attacks. 31695331 2019
CUI: C0019243
Disease: Angioedemas, Hereditary
Angioedemas, Hereditary 		0.400 Biomarker disease BEFREE To assess whether the selective bradykinin receptor-2 antagonist Icatibant is effective in acute edema attacks of hereditary angioedema. 17418383 2007
CUI: C0019243
Disease: Angioedemas, Hereditary
Angioedemas, Hereditary 		0.400 Biomarker disease BEFREE Bradykinin, which is considered to be a byproduct of the plasma contact system during in vitro coagulation, is the main disease mediator in HAE. 29920929 2018
CUI: C0019243
Disease: Angioedemas, Hereditary
Angioedemas, Hereditary 		0.400 GeneticVariation disease BEFREE Low C1-INH function results in overproduction of bradykinin, the primary cause of HAE symptoms. 22801442 2012
CUI: C0019243
Disease: Angioedemas, Hereditary
Angioedemas, Hereditary 		0.400 Biomarker disease BEFREE Hereditary angioedema: Looking for bradykinin production and triggers of vascular permeability. 31574187 2019
CUI: C0019243
Disease: Angioedemas, Hereditary
Angioedemas, Hereditary 		0.400 Biomarker disease BEFREE The swelling in C1-INH-HAE is a result of impaired regulation of bradykinin production. 30479631 2018
CUI: C0019243
Disease: Angioedemas, Hereditary
Angioedemas, Hereditary 		0.400 Biomarker disease BEFREE The primary mediator of swelling in HAE is bradykinin, a product of the plasma contact system that increases vascular permeability. 24484972 2014
CUI: C0019243
Disease: Angioedemas, Hereditary
Angioedemas, Hereditary 		0.400 Biomarker disease BEFREE Unregulated pKal activity can lead to hereditary angioedema (HAE) following excess bradykinin release. 30876891 2019