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: 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