Butyrylcholinesterase

Preferred Label : Butyrylcholinesterase;

Symbol : BCHE;

CISMeF acronym : BCHE;

Type : Gene;

Alternative titles and symbols : Pseudocholinesterase e1; Acylcholine acylhydrolase; CHE1;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the butrylcholinesterase gene (BCHE, 177400.0001);

Ensembl ID : ENSG00000114200;

Prefixed ID : *177400;

Details

Origin ID

177400;

UMLS CUI

C1412756;

Automatic exact mappings (from CISMeF team)
- AATF wt Allele [NCIt concept]
- BCHE Gene [NCIt concept]
- BCHE gene [LOINC component]
- BCHE wt Allele [NCIt concept]
- Butyrylcholinesterase (substance) [SNOMED CT concept]
- Butyrylcholinesterase Measurement [NCIt concept]
- Cholinesterase [NCIt concept]
- butyrylcholinesterase [ORDO Gene]
- butyrylcholinesterase [HGNC gene]
- butyrylcholinesterase [MeSH concept]
HGNC gene
- butyrylcholinesterase [HGNC gene]
Phenotypes related
- Butyrylcholinesterase deficiency [OMIM Phenotype]
See also inter- (CISMeF)
- Cholinesterase [NCIt concept]
- butyrylcholinesterase [MeSH Descriptor]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- BCHE Gene [NCIt concept]
- BCHE gene [LOINC component]
- butyrylcholinesterase [HGNC gene]

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