F12, coagulation factor XII, 2161

N. diseases: 87; N. variants: 22
Disease: Hereditary Angioedema Type III ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1857728
Disease: Hereditary Angioedema Type III
Hereditary Angioedema Type III 		0.740 Biomarker disease CLINGEN An investigational RNAi therapeutic targeting Factor XII (ALN-F12) for the treatment of hereditary angioedema. 30463937 2019
CUI: C1857728
Disease: Hereditary Angioedema Type III
Hereditary Angioedema Type III 		0.740 Biomarker disease GENOMICS_ENGLAND Identification of Genetic Defects Underlying FXII Deficiency in Four Unrelated Chinese Patients. 27003566 2016
CUI: C1857728
Disease: Hereditary Angioedema Type III
Hereditary Angioedema Type III 		0.740 Biomarker disease CLINGEN Idiopathic angioedema with F12 mutation: is it a new entity? 25524745 2015
CUI: C1857728
Disease: Hereditary Angioedema Type III
Hereditary Angioedema Type III 		0.740 Biomarker disease CLINGEN Defective glycosylation of coagulation factor XII underlies hereditary angioedema type III. 26193639 2015
CUI: C1857728
Disease: Hereditary Angioedema Type III
Hereditary Angioedema Type III 		0.740 Biomarker disease BEFREE Defective glycosylation of coagulation factor XII underlies hereditary angioedema type III. 26193639 2015
CUI: C1857728
Disease: Hereditary Angioedema Type III
Hereditary Angioedema Type III 		0.740 Biomarker disease CLINGEN Novel duplication in the F12 gene in a patient with recurrent angioedema. 23994767 2013
CUI: C1857728
Disease: Hereditary Angioedema Type III
Hereditary Angioedema Type III 		0.740 Biomarker disease CLINGEN A novel mutation in the coagulation factor 12 gene in subjects with hereditary angioedema and normal C1-inhibitor. 21849258 2011
CUI: C1857728
Disease: Hereditary Angioedema Type III
Hereditary Angioedema Type III 		0.740 GermlineCausalMutation disease ORPHANET Type III hereditary angio-oedema: clinical and biological features in a French cohort. 20384613 2010
CUI: C1857728
Disease: Hereditary Angioedema Type III
Hereditary Angioedema Type III 		0.740 GeneticVariation disease BEFREE Missense mutation Thr309Lys in the coagulation factor XII gene in a Spanish family with hereditary angioedema type III. 19178407 2009
CUI: C1857728
Disease: Hereditary Angioedema Type III
Hereditary Angioedema Type III 		0.740 Biomarker disease GENOMICS_ENGLAND Genetic analysis of Factor XII and bradykinin catabolic enzymes in a family with estrogen-dependent inherited angioedema. 19178938 2009
CUI: C1857728
Disease: Hereditary Angioedema Type III
Hereditary Angioedema Type III 		0.740 Biomarker disease CLINGEN A case of hereditary angio-oedema type III presenting with C1-inhibitor cleavage and a missense mutation in the F12 gene. 17381464 2007
CUI: C1857728
Disease: Hereditary Angioedema Type III
Hereditary Angioedema Type III 		0.740 Biomarker disease CLINGEN Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor. 16638441 2006
CUI: C1857728
Disease: Hereditary Angioedema Type III
Hereditary Angioedema Type III 		0.740 AlteredExpression disease BEFREE Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III. 17186468 2006
CUI: C1857728
Disease: Hereditary Angioedema Type III
Hereditary Angioedema Type III 		0.740 GeneticVariation disease UNIPROT Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor. 16638441 2006
CUI: C1857728
Disease: Hereditary Angioedema Type III
Hereditary Angioedema Type III 		0.740 GeneticVariation disease UNIPROT Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III. 17186468 2006
CUI: C1857728
Disease: Hereditary Angioedema Type III
Hereditary Angioedema Type III 		0.740 GeneticVariation disease BEFREE Hereditary angioedema with normal C1 inhibitor activity including hereditary angioedema with coagulation factor XII gene mutations. 17085286 2006
CUI: C1857728
Disease: Hereditary Angioedema Type III
Hereditary Angioedema Type III 		0.740 Biomarker disease GENOMICS_ENGLAND Factor XII gene alteration in Hageman trait detected by TaqI restriction enzyme. 2882793 1987
CUI: C1857728
Disease: Hereditary Angioedema Type III
Hereditary Angioedema Type III 		0.740 Biomarker disease CTD_human
CUI: C1857728
Disease: Hereditary Angioedema Type III
Hereditary Angioedema Type III 		0.740 CausalMutation disease CLINVAR