F8 wt Allele - CISMeF

Preferred Label : F8 wt Allele;

NCIt synonyms : FVIII; DXS1253E; AHF; F8C; Coagulation Factor VIII, Procoagulant Component (Hemophilia A) wt Allele; HEMA; F8B;

NCIt definition : Human F8 wild-type allele is located within Xq28 and is approximately 548 kb in length. This allele, which encodes coagulation factor VIII protein, is involved in the intrinsic blood coagulation pathway. Defects in this gene generate variant alleles. These variants result in hemophilia A, a common recessive X-linked coagulation disorder.;

GenBank Accession Number : NM_000132;

Détails

Origin ID

C51235;

UMLS CUI

C1704822;

OMIM relation
- Coagulation factor VIII [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_associated_with_disease
- Hemophilia A [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- X: 154175290-153627773 [NCIt concept]
gene_in_chromosomal_location
- Xq28 [NCIt concept]
gene_is_element_in_pathway
- Complement and Coagulation Cascade [NCIt concept]
- Intrinsic Prothrombin Activation Pathway [NCIt concept]
gene_plays_role_in_process
- Calcium Binding [NCIt concept]
- Coagulation Process [NCIt concept]
- Homeostatic Process [NCIt concept]
- Ligand Binding [NCIt concept]

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

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