Galactokinase 1

Preferred Label : Galactokinase 1;

Symbol : GALK1;

CISMeF acronym : GALK1;

Type : Gene;

Alternative titles and symbols : GALK; GK1;

Ensembl ID : ENSG00000108479;

Prefixed ID : *604313;

Details

Origin ID

604313;

UMLS CUI

C1414948;

Automatic exact mappings (from CISMeF team)
- Deficiency of galactokinase (disorder) [SNOMED CT concept]
- GK wt Allele [NCIt concept]
- Galactokinase [NCIt concept]
- Galactokinase deficiency [ICD-11 Sub-sub category]
- Galactokinase deficiency [LOINC component]
- glycerol kinase [ORDO Gene]
Currated CISMeF NLP mapping
- GALK1 Gene [NCIt concept]
- galactokinase 1 [ORDO Gene]
- galactokinase 1 [HGNC gene]
HGNC gene
- galactokinase 1 [HGNC gene]
NCIt concept(s)
- GALK1 Gene [NCIt concept]
- GALK1 wt Allele [NCIt concept]
- Galactokinase [NCIt concept]
ORDO concept(s)
- galactokinase 1 [ORDO Gene]
Phenotypes related
- Galactosemia II [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- GALK1 Gene [NCIt concept]
- galactokinase 1 [HGNC gene]
Validated automatic mappings to BTNT
- GALK1 wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients