CFP wt Allele - CISMeF

Preferred Label : CFP wt Allele;

NCIt synonyms : PFC; PFD; Properdin P Factor, Complement Gene; PROPERDIN; BFD; Complement Factor Properdin wt Allele;

NCIt definition : Human CFP wild-type allele is located in the vicinity of Xp11.4 and is approximately 6 kb in length. This allele, which encodes properdin protein, is involved in the positive regulation of the alternative complement pathway. Point mutations in the gene are associated with properdin deficiency.;

GenBank Accession Number : M83652;

Details

Origin ID

C118198;

UMLS CUI

C3889643;

Automatic exact mappings (from CISMeF team)
- Complement factor P [LOINC component]
- Complement factor properdin [OMIM gene]
- Mccune-albright syndrome [OMIM Phenotype]
- Polyostotic fibrous dysplasia [ICD-11 More detail]
- Properdin (substance) [SNOMED CT concept]
- Properdin deficiency, X-linked [OMIM Phenotype]
- complement factor D [ORDO Gene]
- complement factor properdin [ORDO Gene]
- persistent fetal circulation syndrome [MeSH Descriptor]
- properdin [MeSH Descriptor]
- properdin [MeSH concept]
OMIM relation
- Complement factor properdin [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
- Alternative Complement Pathway [NCIt concept]
gene_plays_role_in_process
- Complement Activation [NCIt concept]
- Immunity [NCIt concept]

Keyword's position in hierarchy(ies) :

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