KNG1, kininogen 1, 3827

N. diseases: 279; N. variants: 24
Disease: High molecular weight kininogen deficiency ×
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 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 Biomarker disease GENOMICS_ENGLAND Genome-wide association study with additional genetic and post-transcriptional analyses reveals novel regulators of plasma factor XI levels. 28053049 2017
CUI: C0272340
Disease: High molecular weight kininogen deficiency
High molecular weight kininogen deficiency 		0.770 GermlineCausalMutation disease ORPHANET Isolated high-molecular-weight kininogen deficiency: a novel frameshift mutation in exon 10. 17522339 2007
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 GENOMICS_ENGLAND 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 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 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 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 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 Kininogen deficiency in Fitzgerald trait: role of high molecular weight kininogen in clotting and fibrinolysis. 1245795 1976
CUI: C0272340
Disease: High molecular weight kininogen deficiency
High molecular weight kininogen deficiency 		0.770 Biomarker disease CTD_human
CUI: C0272340
Disease: High molecular weight kininogen deficiency
High molecular weight kininogen deficiency 		0.770 GeneticVariation disease CLINVAR