Methylenetetrahydrofolate dehydrogenase 1

Preferred Label : Methylenetetrahydrofolate dehydrogenase 1;

Symbol : MTHFD1;

CISMeF acronym : MTHFD1;

Type : Gene;

Alternative titles and symbols : Methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase, nadp( )-dependent; Cyclohydrolase/formyltetrahydrofolate synthetase, nadp( )-dependent; C1-tetrahydrofolate synthase, cytoplasmic; C1-THF-SYNTHASE;

Ensembl ID : ENSG00000100714;

Prefixed ID : *172460;

Détails

Origin ID

172460;

UMLS CUI

C1417420;

Automatic exact mappings (from CISMeF team)
- C-1-Tetrahydrofolate Synthase, Cytoplasmic [NCIt concept]
- MTHFD1 Gene [NCIt concept]
- methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 [HGNC gene]
- methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 [ORDO Gene]
HGNC gene
- methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 [HGNC gene]
NCIt concept(s)
- C-1-Tetrahydrofolate Synthase, Cytoplasmic [NCIt concept]
- MTHFD1 Gene [NCIt concept]
- MTHFD1 wt Allele [NCIt concept]
ORDO concept(s)
- methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 [ORDO Gene]
Phenotypes related
- Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia [OMIM Phenotype]
- Neural tube defects, folate-sensitive [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- MTHFD1 Gene [NCIt concept]
- methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 [HGNC gene]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients