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 |
Hereditary Angioedema Type III
|
0.740 |
Biomarker
|
disease |
CLINGEN |
Idiopathic angioedema with F12 mutation: is it a new entity?
|
25524745 |
2015 |
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 |
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 |
Hereditary Angioedema Type III
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Identification of Genetic Defects Underlying FXII Deficiency in Four Unrelated Chinese Patients.
|
27003566 |
2016 |
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 |
Hereditary Angioedema Type III
|
0.740 |
GermlineCausalMutation
|
disease |
ORPHANET |
Type III hereditary angio-oedema: clinical and biological features in a French cohort.
|
20384613 |
2010 |
Hereditary Angioedema Type III
|
0.740 |
Biomarker
|
disease |
CLINGEN |
Defective glycosylation of coagulation factor XII underlies hereditary angioedema type III.
|
26193639 |
2015 |
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 |
Hereditary Angioedema Type III
|
0.740 |
Biomarker
|
disease |
CTD_human |
|
|
|
Hereditary Angioedema Type III
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Hereditary Angioedema Type III
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Factor XII gene alteration in Hageman trait detected by TaqI restriction enzyme.
|
2882793 |
1987 |
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 |
Hereditary Angioedema Type III
|
0.740 |
AlteredExpression
|
disease |
BEFREE |
Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III.
|
17186468 |
2006 |
Hereditary Angioedema Type III
|
0.740 |
Biomarker
|
disease |
BEFREE |
Defective glycosylation of coagulation factor XII underlies hereditary angioedema type III.
|
26193639 |
2015 |
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 |
Hereditary Angioedema Type III
|
0.740 |
GeneticVariation
|
disease |
UNIPROT |
Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III.
|
17186468 |
2006 |
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 |
Hereditary Angioedema Type III
|
0.740 |
Biomarker
|
disease |
CLINGEN |
Novel duplication in the F12 gene in a patient with recurrent angioedema.
|
23994767 |
2013 |