KLKB1, kallikrein B1, 3818

N. diseases: 88; N. variants: 63
Disease: Prekallikrein deficiency ×
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