GALK1 wt Allele

Preferred Label : GALK1 wt Allele;

NCIt synonyms : GK1; GALK; HEL-S-19; Galactokinase 1 wt Allele;

NCIt definition : Human GALK1 wild-type allele is located in the vicinity of 17q25.1 and is approximately 14 kb in length. This allele, which encodes galactokinase protein, plays a role in galactose metabolism. Loss of function mutations in the gene are associated with galactosemia due to galactokinase deficiency.;

NCI Metathesaurus CUI : CL1798907;

GenBank Accession Number : NM_000154;

Details

Origin ID

C190407;

UMLS CUI

C5780951;

Automatic exact mappings (from CISMeF team)
- Deficiency of galactokinase (disorder) [SNOMED CT concept]
- Galactokinase deficiency [ICD-11 Sub-sub category]
- Galactokinase deficiency [LOINC component]
- glycerol kinase [ORDO Gene]
OMIM relation
- Galactokinase 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- Galactokinase 1 [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17q25.1 [NCIt concept]
gene_is_element_in_pathway
- Amino and Nucleotide Sugars Metabolism Pathway [NCIt concept]
- Galactose Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Carbohydrate Metabolic Process [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]
- Phosphorylation Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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