Disease: Hereditary Angioedema Type III ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Angioedema Type III
CUI: C1857728
Disease: Hereditary Angioedema Type III
0.830 GeneticVariation BEFREE Consistent with this, mutant fXII (fXII-Thr309Lys) from patients with hereditary angioedema type III (HAEIII) is protected from CpaA inactivation. 30563903 2018
Hereditary Angioedema Type III
CUI: C1857728
Disease: Hereditary Angioedema Type III
0.830 GeneticVariation BEFREE Intravital laser-scanning microscopy revealed that, compared with control animals, both F12-/- mice reconstituted with recombinant mutant forms of FXII and humanized HAEIII mouse models with inducible liver-specific expression of Thr309Lys-mutated FXII exhibited increased contact-driven microvascular leakage. 26193639 2015
Hereditary Angioedema Type III
CUI: C1857728
Disease: Hereditary Angioedema Type III
0.830 GeneticVariation BEFREE Missense mutation Thr309Lys in the coagulation factor XII gene in a Spanish family with hereditary angioedema type III. 19178407 2009
Hereditary Angioedema Type III
CUI: C1857728
Disease: Hereditary Angioedema Type III
0.830 GeneticVariation UNIPROT
Hereditary Angioedema Type III
CUI: C1857728
Disease: Hereditary Angioedema Type III
0.830 CausalMutation CLINVAR
Hereditary Angioedema Type III
CUI: C1857728
Disease: Hereditary Angioedema Type III
0.830 CausalMutation CLINVAR