5,10-methylenetetrahydrofolate reductase

Preferred Label : 5,10-methylenetetrahydrofolate reductase;

Symbol : MTHFR;

CISMeF acronym : MTHFR;

Type : Gene;

Ensembl ID : ENSG00000177000;

Prefixed ID : *607093;

Details

Origin ID

607093;

UMLS CUI

C0919427;

Automatic exact mappings (from CISMeF team)
- 5' 10' Methylenetetrahydrofolate Reductase Deficiency [NCIt concept]
- 5,10-Methylenetetrahydrofolate reductase [LOINC component]
- Methylenetetrahydrofolate Reductase [NCIt concept]
- methylenetetrahydrofolate reductase [ORDO Gene]
- methylenetetrahydrofolate reductase (NADPH2) [MeSH Descriptor]
Currated CISMeF NLP mapping
- MTHFR Gene [NCIt concept]
- MTHFR gene [LOINC component]
- methylenetetrahydrofolate reductase [HGNC gene]
HGNC gene
- methylenetetrahydrofolate reductase [HGNC gene]
NCIt concept(s)
- MTHFR Gene [NCIt concept]
- MTHFR wt Allele [NCIt concept]
- Methylenetetrahydrofolate Reductase [NCIt concept]
ORDO concept(s)
- methylenetetrahydrofolate reductase [ORDO Gene]
Phenotypes related
- Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity [OMIM Phenotype]
- Neural tube defects, folate-sensitive [OMIM Phenotype]
- Schizophrenia [OMIM Phenotype]
- Thrombophilia due to thrombin defect [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- MTHFR Gene [NCIt concept]
- MTHFR gene [LOINC component]
- methylenetetrahydrofolate reductase [HGNC gene]

Keyword's position in hierarchy(ies) :

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