F9 wt Allele - CISMeF

Preferred Label : F9 wt Allele;

NCIt synonyms : PTC; FIX; HEMB; P19; Coagulation Factor IX (Plasma Thromboplastic Component, Christmas Disease, Hemophilia B) Gene; Hemophilia B Gene; Christmas Disease Gene; RP6-88D7.1; Coagulation Factor IX wt Allele; THPH8;

NCIt definition : Human F9 wild-type allele is located within Xq27.1-q27.2 and is approximately 33 kb in length. This allele, which encodes coagulation factor IX protein, plays a role in the intrinsic blood coagulation cascade. Alterations of this gene, including point mutations, insertions and deletions, cause factor IX deficiency. This is a recessive X-linked disorder, also called hemophilia B or Christmas disease.;

GenBank Accession Number : NM_000133;

Details

Origin ID

C51236;

UMLS CUI

C1705338;

Currated CISMeF NLP mapping
- Fixed (qualifier value) [SNOMED CT concept]
False automatic mappings
- fixed [Radlex concept]
OMIM relation
- Coagulation factor ix [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 B [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- X: 138228415-138371137 [NCIt concept]
gene_in_chromosomal_location
- Xq27.1-q27.2 [NCIt concept]
gene_is_element_in_pathway
- Complement and Coagulation Cascade [NCIt concept]
- Intrinsic Prothrombin Activation Pathway [NCIt concept]
- Platelet Amyloid Precursor Protein Pathway [NCIt concept]
gene_plays_role_in_process
- Calcium Binding [NCIt concept]
- Coagulation Process [NCIt concept]
- Homeostatic Process [NCIt concept]
- Hydrolysis [NCIt concept]
- Ligand Binding [NCIt concept]
- Proteolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

Main resources

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