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 GeneticVariation disease CLINVAR
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: 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 GeneticVariation disease BEFREE Convincing data have also recently been published indicating that the clinical heterogeneity of hereditary angioedema due to C1 inhibitor deficiency (classified as C1-INH-HAE) could be attributed at least in part, either to the type of SERPING1 mutations or to mutations in genes encoding for enzymes involved in the metabolism and function of bradykinin. 27116602 2016
CUI: C0019243
Disease: Angioedemas, Hereditary
Angioedemas, Hereditary 		0.400 GeneticVariation disease BEFREE Hereditary and acquired angioedema due to C1-inhibitor deficiency (C1-INH-HAE and -AAE) are diseases characterized by serious and potentially fatal attacks of subcutaneous and submucosal edemas of upper airways, facial structures, abdomen, and extremities, due to inadequate control of BK generation. 27018196 2016
CUI: C0019243
Disease: Angioedemas, Hereditary
Angioedemas, Hereditary 		0.400 GeneticVariation disease BEFREE HAE is caused by SERPING1 gene mutations resulting in decreased or dysfunctional plasma protease C1 inhibitor (C1-INH) leading to a loss of inhibition of plasma kallikrein activity with subsequent cleavage of high-molecular weight kininogen and release of bradykinin. 31347612 2019
CUI: C0019243
Disease: Angioedemas, Hereditary
Angioedemas, Hereditary 		0.400 GeneticVariation disease BEFREE Hereditary angioedema with C1-inhibitor deficiency (C1-INH-HAE) is a form of bradykinin-mediated angioedema. 29214395 2018
CUI: C0019243
Disease: Angioedemas, Hereditary
Angioedemas, Hereditary 		0.400 GeneticVariation disease BEFREE In this study, exon 1 nonanucleotide deletion polymorphism in the B2BKR gene was examined in 37 patients with hereditary angioedema. 12039525 2002
CUI: C0019243
Disease: Angioedemas, Hereditary
Angioedemas, Hereditary 		0.400 GeneticVariation disease BEFREE To characterize the clinical profile, management and outcomes of patients with HAE type I and II from three specialist centres in the UK using data from the Icatibant Outcome Survey (IOS; Shire, Zug, Switzerland), an international observational study monitoring safety and effectiveness of icatibant, a selective bradykinin B2 receptor antagonist. 30127805 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.400 GeneticVariation group BEFREE Association of the bradykinin receptors genes variants with hypertension: a case-control study and meta-analysis. 26362411 2016
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.400 GeneticVariation group BEFREE Sequence variation of bradykinin receptors B1 and B2 and association with hypertension. 15643125 2005
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.400 GeneticVariation group BEFREE It was recently reported that a polymorphism of the bradykinin B2 receptor gene (BDKRB2) is a genetic predisposing factor for hypertension and cardiovascular disease. 15894833 2004
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.400 GeneticVariation group BEFREE A meta-analysis of the bradykinin B2 receptor gene --58C/T polymorphism with hypertension. 20036225 2010
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.400 GeneticVariation group BEFREE Markers at the peroxisome proliferative activated receptor gamma coactivator 1α (PPARGC1A) and bradykinin β2 receptor (BDKRB2) genes were nominally associated with greater risk of hypertension, although one marker each at the BDKRB2 and endothelial nitric oxide synthase-3 (NOS3) genes were nominally associated with lower risk. 20944660 2011
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.400 GeneticVariation group BEFREE Polymorphisms of bradykinin B2 receptor (BDKRB2) gene are reported to be predisposing factors for hypertension. 22468762 2012
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.400 GeneticVariation group BEFREE Risk of bradykinin B2 receptor -58T/C gene polymorphism on hypertension: A meta-analysis. 27007662 2016
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.400 GeneticVariation group BEFREE Variation in bradykinin receptor genes increases the cardiovascular risk associated with hypertension. 14499231 2003
CUI: C0010200
Disease: Coughing
Coughing 		0.380 GeneticVariation phenotype BEFREE Angiotensin-converting enzyme gene insertion/deletion, not bradykinin B2 receptor -58T/C gene polymorphism, associated with angiotensin-converting enzyme inhibitor-related cough in Chinese female patients with non-insulin-dependent diabetes mellitus. 11699055 2001
CUI: C0010200
Disease: Coughing
Coughing 		0.380 GeneticVariation phenotype BEFREE Several polymorphisms of the human bradykinin B(2) receptor gene may be involved in ACE inhibitor-related cough. 10904024 2000
CUI: C0010200
Disease: Coughing
Coughing 		0.380 GeneticVariation phenotype BEFREE We found no significant links between polymorphisms of the ACE gene or bradykinin B2 receptor gene with ACE inhibitor-induced coughing in hypertensive Koreans. 19744011 2009
CUI: C0002792
Disease: anaphylaxis
anaphylaxis 		0.360 GeneticVariation phenotype BEFREE Nine patients experienced anaphylactic reactions due to bradykinin and six had to have their treatment changed. 18503695 2008
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.120 GeneticVariation phenotype GWASCAT Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism. 31420334 2019
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.120 GeneticVariation phenotype BEFREE Seven SNPs (F5 rs6025, F2 rs1799963, ABO rs514659, FGG rs2066865, F11 rs2289252, PROC rs1799810 and KNG1 rs710446) with four SNP-SNP interactions contributed to the genetic risk score for VTE, with an AUC of 0.66 (95% CI, 0.64-0.68). 25472531 2015
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.100 GeneticVariation group BEFREE Screening the human bradykinin B2 receptor gene in patients with cardiovascular diseases: identification of a functional mutation in the promoter and a new coding variant (T21M). 9880221 1998
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.100 GeneticVariation group BEFREE It was recently reported that a polymorphism of the bradykinin B2 receptor gene (BDKRB2) is a genetic predisposing factor for hypertension and cardiovascular disease. 15894833 2004