F12 wt Allele - CISMeF

Preferred Label : F12 wt Allele;

NCIt synonyms : HAEX; HAE3; HAF; Coagulation Factor XII (Hageman Factor) wt Allele;

NCIt definition : Human F12 wild-type allele is located within 5q33-qter and is approximately 8 kb in length. This allele, which encodes coagulation factor XII protein, plays a role in coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. Mutations in the F12 gene are associated with angioedema, hereditary, type III.;

GenBank Accession Number : M31315;

Details

Origin ID

C104217;

UMLS CUI

C3540525;

OMIM relation
- Coagulation factor XII [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Complement and Coagulation Cascade [NCIt concept]
- Intrinsic Prothrombin Activation Pathway [NCIt concept]
gene_plays_role_in_process
- Coagulation Process [NCIt concept]
- Hydrolysis [NCIt concept]
- Ligand Binding [NCIt concept]
- Proteolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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