MEN1 Gene Mutation

Preferred Label : MEN1 Gene Mutation;

NCIt synonyms : SCG2 Gene Mutation; Menin Gene Mutation; Multiple Endocrine Neoplasia 1 Gene Mutation; MEN I Gene Mutation; MEAI Gene Mutation; Menin 1 Gene Mutation; MEA I Gene Mutation; Multiple Endocrine Neoplasia I Gene Mutation;

NCIt related terms : MEN1 Mutation;

NCIt definition : A change in the nucleotide sequence of the MEN1 gene.;

Details

Origin ID

C118387;

UMLS CUI

C3898552;

Automatic exact mappings (from CISMeF team)
- Multiple endocrine neoplasia type 1 [ORDO Disease]
- multiple endocrine neoplasia type 1 [MeSH Descriptor]
Molecular abnormality of diseases
- Hereditary Isolated Hyperparathyroidism [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_not_molecular_abnormality_of_disease
- CDC73-Related Neoplastic Syndrome [NCIt concept]
- Hyperparathyroidism-Jaw Tumor Syndrome [NCIt concept]
molecular_abnormality_involves_gene
- MEN1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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