CFB wt Allele - CISMeF

Preferred Label : CFB wt Allele;

NCIt synonyms : GBG; FBI12; AHUS4; FB; PBF2; BFD; CFAB; BF; CFBD; H2-Bf; B-Factor, Properdin Gene; Complement Factor B wt Allele; ARMD14;

NCIt definition : Human CFB wild-type allele is located in the vicinity of 6p21.33 and is approximately 6 kb in length. This allele, which encodes complement factor B protein, is involved in convertase activity associated with complement activation. Mutation of the gene is associated with complement deficiency, decreased risk for age-related macular degeneration and increased susceptibility to atypical hemolytic uremic syndrome.;

NCI Metathesaurus CUI : CL1648288;

GenBank Accession Number : L15702;

Details

Origin ID

C178648;

UMLS CUI

C5551103;

Automatic exact mappings (from CISMeF team)
- Complement factor B [LOINC component]
- Complement factor b [OMIM gene]
- Complement factor b deficiency [OMIM Phenotype]
- Distal membrane arm assembly complex 2-like protein [OMIM gene]
- Hemolytic uremic syndrome, atypical, susceptibility to, 4 [OMIM Phenotype]
- Interleukin 2 [LOINC component]
- Interleukin-2 [MeSH Descriptor]
- Macular degeneration, age-related, 14 [OMIM Phenotype]
- Removal of foreign body from eye (procedure) [SNOMED CT concept]
- Sex hormone binding globulin [LOINC component]
- Sex steroid binding globulin (substance) [SNOMED CT concept]
- age related macular degeneration 14 [DO Concept]
- complement factor B [ORDO Gene]
- forebrain [UBERON concept]
- foreign bodies [MeSH Descriptor]
- mycosis fungoides [MeSH Descriptor]
OMIM relation
- Complement factor b [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 6p21.33 [NCIt concept]
gene_is_element_in_pathway
- Alternative Complement Pathway [NCIt concept]
- Complement and Coagulation Cascade [NCIt concept]
gene_plays_role_in_process
- Complement Activation [NCIt concept]
- Hydrolysis [NCIt concept]
- Proteolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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