KLKB1, kallikrein B1, 3818

N. diseases: 88; N. variants: 63
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0272339
Disease: Prekallikrein deficiency
Prekallikrein deficiency 		0.740 GeneticVariation disease BEFREE The majority of the reports did not indicate any association between prekallikrein deficiency and comorbidities; however, additional observation is required to confirm the long-term safety of plasma kallikrein inhibition. 31530337 2019
CUI: C0272339
Disease: Prekallikrein deficiency
Prekallikrein deficiency 		0.740 GermlineCausalMutation disease ORPHANET A large family from Argentina with prekallikrein deficiency due to a compound heterozygosis (T insertion in intron 7 and Asp558Glu in exon 15): prekallikrein Cordoba. 20301226 2010
CUI: C0272339
Disease: Prekallikrein deficiency
Prekallikrein deficiency 		0.740 Biomarker disease GENOMICS_ENGLAND A large family from Argentina with prekallikrein deficiency due to a compound heterozygosis (T insertion in intron 7 and Asp558Glu in exon 15): prekallikrein Cordoba. 20301226 2010
CUI: C0272339
Disease: Prekallikrein deficiency
Prekallikrein deficiency 		0.740 GeneticVariation disease UNIPROT A new type of plasma prekallikrein deficiency associated with homozygosity for Gly104Arg and Asn124Ser in apple domain 2 of the heavy-chain region. 17598838 2007
CUI: C0272339
Disease: Prekallikrein deficiency
Prekallikrein deficiency 		0.740 GermlineCausalMutation disease ORPHANET Severe prekallikrein deficiency associated with homozygosity for an Arg94Stop nonsense mutation. 15461630 2004
CUI: C0272339
Disease: Prekallikrein deficiency
Prekallikrein deficiency 		0.740 GeneticVariation disease UNIPROT Severe prekallikrein (Fletcher factor) deficiency due to a compound heterozygosis (383Trp stop codon and Cys529Tyr). 14652634 2003
CUI: C0272339
Disease: Prekallikrein deficiency
Prekallikrein deficiency 		0.740 GeneticVariation disease CLINVAR Prekallikrein (PK) Tokushima: PK deficiency caused by a Gly401-->Glu mutation. 12871337 2003
CUI: C0272339
Disease: Prekallikrein deficiency
Prekallikrein deficiency 		0.740 Biomarker disease BEFREE Studies of plasma prekallikrein in a family with prekallikrein deficiency were made. 3487556 1986
CUI: C0272339
Disease: Prekallikrein deficiency
Prekallikrein deficiency 		0.740 Biomarker disease BEFREE We studied the plasma of 18 patients with a functional deficiency of plasma prekallikrein (Fletcher trait). 6792540 1981
CUI: C0272339
Disease: Prekallikrein deficiency
Prekallikrein deficiency 		0.740 GeneticVariation disease BEFREE Two siblings with hereditary Fletcher factor (prekallikrein) deficiency were studied for alterations of fibrinolysis, platelet function, skin inflammatory responses, permeability factor (PF/dil) formation and leukocyte chemotaxis. 1020754 1976
CUI: C0272339
Disease: Prekallikrein deficiency
Prekallikrein deficiency 		0.740 Biomarker disease GENOMICS_ENGLAND Fletcher factor deficiency. A diminished rate of Hageman factor activation caused by absence of prekallikrein with abnormalities of coagulation, fibrinolysis, chemotactic activity, and kinin generation. 11344577 1974
CUI: C0272339
Disease: Prekallikrein deficiency
Prekallikrein deficiency 		0.740 Biomarker disease CTD_human
CUI: C0272339
Disease: Prekallikrein deficiency
Prekallikrein deficiency 		0.740 CausalMutation disease CLINVAR
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.320 Biomarker group BEFREE Gene targeting and pharmacological studies in healthy animals have confirmed that PPK and FXII blockade does not cause coagulopathies. 28824910 2017
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.320 AlteredExpression group BEFREE Coagulation studies in a 50-yr-old French woman without bleeding tendency revealed the following results: whole-blood clotting time in glass tubes and activated partial thromboplastin time with kaolin and ellagic acid were greatly prolonged; one-stage prothrombin was normal; no circulating anticoagulant was detected, and the infusion of normal plasma corrected the coagulation defect with an estimated half-life of 6.5 days; the levels of factor VIII, IX, XI, and XII were normal; mutual correction was obtained with a Fletcher factor-deficient plasma; the level of whole complement was normal. 1174709 1975
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.320 Biomarker group GENOMICS_ENGLAND Fletcher factor deficiency. A diminished rate of Hageman factor activation caused by absence of prekallikrein with abnormalities of coagulation, fibrinolysis, chemotactic activity, and kinin generation. 11344577 1974
CUI: C0007274
Disease: Carotid Artery Thrombosis
Carotid Artery Thrombosis 		0.300 Biomarker disease CTD_human Reduced thrombosis in Klkb1-/- mice is mediated by increased Mas receptor, prostacyclin, Sirt1, and KLF4 and decreased tissue factor. 25339356 2015
CUI: C0034065
Disease: Pulmonary Embolism
Pulmonary Embolism 		0.300 Biomarker disease CTD_human Reduced thrombosis in Klkb1-/- mice is mediated by increased Mas receptor, prostacyclin, Sirt1, and KLF4 and decreased tissue factor. 25339356 2015
CUI: C0040053
Disease: Thrombosis
Thrombosis 		0.300 Biomarker phenotype CTD_human Klkb1(-/-) mice have delayed carotid artery occlusion times on the rose bengal and ferric chloride thrombosis models. 25339356 2015
CUI: C0087086
Disease: Thrombus
Thrombus 		0.300 Biomarker phenotype CTD_human Reduced thrombosis in Klkb1-/- mice is mediated by increased Mas receptor, prostacyclin, Sirt1, and KLF4 and decreased tissue factor. 25339356 2015
CUI: C0524702
Disease: Pulmonary Thromboembolisms
Pulmonary Thromboembolisms 		0.300 Biomarker disease CTD_human However, in contact activation-induced pulmonary thromboembolism by collagen/epinephrine or long-chain polyphosphate, Klkb1(-/-) mice, unlike F12(-/-) mice, do not have survival advantage. 25339356 2015
CUI: C0750988
Disease: Common Carotid Artery Thrombosis
Common Carotid Artery Thrombosis 		0.300 Biomarker disease CTD_human Reduced thrombosis in Klkb1-/- mice is mediated by increased Mas receptor, prostacyclin, Sirt1, and KLF4 and decreased tissue factor. 25339356 2015
CUI: C0750989
Disease: External Carotid Artery Thrombosis
External Carotid Artery Thrombosis 		0.300 Biomarker disease CTD_human Reduced thrombosis in Klkb1-/- mice is mediated by increased Mas receptor, prostacyclin, Sirt1, and KLF4 and decreased tissue factor. 25339356 2015
CUI: C0750990
Disease: Internal Carotid Artery Thrombosis
Internal Carotid Artery Thrombosis 		0.300 Biomarker disease CTD_human Reduced thrombosis in Klkb1-/- mice is mediated by increased Mas receptor, prostacyclin, Sirt1, and KLF4 and decreased tissue factor. 25339356 2015
CUI: C0243026
Disease: Sepsis
Sepsis 		0.210 Biomarker disease BEFREE These findings identify plasma kallikrein as a novel host pathogenicity factor in Streptococcus pyogenes sepsis. 31320552 2019