FLCN Gene Mutation

Preferred Label : FLCN Gene Mutation;

NCIt synonyms : Birt-Hogg-Dubé Gene Mutation; Birt Hogg Dubé Gene Mutation; Birt-Hogg-Dube Gene Mutation; Birt Hogg Dube Gene Mutation; BHD Gene Mutation; Folliculin Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the FLCN gene.;

Details

Origin ID

C51150;

UMLS CUI

C1706884;

Molecular abnormality of diseases
- Hereditary Kidney Oncocytoma [NCIt concept]
- Kidney Oncocytoma [NCIt concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
is_molecular_abnormality_of_disease
- Birt-Hogg-Dube Syndrome [NCIt concept]
- Chromophobe Renal Cell Carcinoma Associated with Birt-Hogg-Dube Syndrome [NCIt concept]
molecular_abnormality_involves_gene
- FLCN Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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