MTHFR Gene Mutation

Preferred Label : MTHFR Gene Mutation;

NCIt synonyms : Methylenetetrahydrofolate Reductase Gene Mutation;

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

Details

Origin ID

C180747;

UMLS CUI

C3805092;

Automatic exact mappings (from CISMeF team)
- MTHFR gene mutation [MedDRA LLT]
- Methylenetetrahydrofolate reductase gene mutation [MedDRA Preferred Term]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- MTHFR gene mutation [MedDRA LLT]
- Methylenetetrahydrofolate reductase gene mutation [MedDRA Preferred Term]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
molecular_abnormality_involves_gene
- MTHFR Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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