F5 wt Allele - CISMeF

Preferred Label : F5 wt Allele;

NCIt synonyms : RPRGL1; PCCF; Coagulation Factor V wt Allele; Coagulation Factor V (Proaccelerin, Labile Factor) Gene; THPH2;

NCIt definition : Human F5 wild-type allele is located in the vicinity of 1q23 and is approximately 75 kb in length. This allele, which encodes coagulation factor V protein, is involved in the mediation of coagulation. Mutation of the gene is associated with hemorrhagic diathesis in factor V deficiency, Budd-Chiari syndrome, thrombophilia due to activated protein C resistance and susceptibility to ischemic stroke.;

GenBank Accession Number : M14335;

Détails

Origin ID

C91333;

UMLS CUI

C2984171;

OMIM relation
- Coagulation factor V [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_in_chromosomal_location
- 1q23 [NCIt concept]
gene_is_element_in_pathway
- Complement and Coagulation Cascade [NCIt concept]
- Extrinsic Prothrombin Activation Pathway [NCIt concept]
- Intrinsic Prothrombin Activation Pathway [NCIt concept]
gene_plays_role_in_process
- Coagulation Process [NCIt concept]
- Ligand Binding [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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