Hexokinase 1 - CISMeF

Preferred Label : Hexokinase 1;

Symbol : HK1;

CISMeF acronym : HK1;

Type : Gene;

Ensembl ID : ENSG00000156515;

Prefixed ID : *142600;

Details

Origin ID

142600;

UMLS CUI

C1415554;

Automatic exact mappings (from CISMeF team)
- Hexokinase 1 [LOINC component]
- Hexokinase 1 (substance) [SNOMED CT concept]
- hexokinase 1 [ORDO Gene]
- hexokinase 1 [HGNC gene]
- hexokinase 1 [SNOMED Notion]
- hook microtubule tethering protein 1 [HGNC gene]
- potassium voltage-gated channel subfamily A member 4 [HGNC gene]
- protein histidine kinase activity [GO term]
HGNC gene
- hexokinase 1 [HGNC gene]
NCIt concept(s)
- HK1 Gene [NCIt concept]
- HK1 wt Allele [NCIt concept]
- Hexokinase-1 [NCIt concept]
ORDO concept(s)
- hexokinase 1 [ORDO Gene]
Phenotypes related
- Hemolytic anemia, nonspherocytic, due to hexokinase deficiency [OMIM Phenotype]
- Neurodevelopmental disorder with visual defects and brain anomalies [OMIM Phenotype]
- Neuropathy, hereditary motor and sensory, russe type [OMIM Phenotype]
- Retinitis pigmentosa 79 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- hexokinase 1 [HGNC gene]

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