Folliculin - CISMeF

Preferred Label : Folliculin;

NCIt synonyms : Birt-Hogg-Dube Syndrome Protein; BHD Skin Lesion Fibrofolliculoma Protein; FLCN; BHD; Folliculin Protein;

NCIt definition : Folliculin protein (579 aa, 64 kDa) is encoded by the human FLCN gene. This protein is purported to play a role in tumor suppresion, but an exact function has yet to be identified. Mutations and truncations in the protein have been implicated in the pathogenesis of fibrofolliculoma formation, Birt-Hogg-Dube syndrome, and colorectal tumorigenesis.;

Details

Origin ID

C63518;

UMLS CUI

C1260068;

Automatic exact mappings (from CISMeF team)
- Beukes hip dysplasia [OMIM Phenotype]
- Birt-hogg-dube syndrome 1 [OMIM Phenotype]
- Folliculin [OMIM gene]
- estrone [MeSH Descriptor]
- folliculin [HGNC gene]
- folliculin [ORDO Gene]
Currated CISMeF NLP mapping
- Folliculin (Hormone) [MeSH concept]
OMIM relation
- Folliculin [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- FLCN protein, human [MeSH concept]
- FLCN protein, human [MeSH Supplementary Concept]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- FLCN Gene [NCIt concept]
- Tumor Suppressor Gene [NCIt concept]
gene_product_plays_role_in_biological_process
- Cell Proliferation Regulatory Process [NCIt concept]
- Tumor Suppression [NCIt concept]

Keyword's position in hierarchy(ies) :

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