EXT1 Gene - CISMeF

Preferred Label : EXT1 Gene;

NCIt synonyms : Exostosin Glycosyltransferase 1 Gene;

NCIt related terms : EXT1;

CISMeF acronym : EXT1;

NCIt definition : This gene plays a role in heparin/heparin sulfate biosynthesis, axon guidance and biogenesis/cell organization.;

Details

Origin ID

C18251;

UMLS CUI

C0694878;

Automatic exact mappings (from CISMeF team)
- EXT1 gene [LOINC component]
- Exostoses, multiple, type I [OMIM Phenotype]
- Exostosin glycosyltransferase 1 [OMIM gene]
- exostosin glycosyltransferase 1 [ORDO Gene]
HGNC gene
- exostosin glycosyltransferase 1 [HGNC gene]
OMIM relation
- Exostosin glycosyltransferase 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- EXT1 gene [LOINC component]
- Exostosin glycosyltransferase 1 [OMIM gene]
- exostosin glycosyltransferase 1 [HGNC gene]
concept_is_in_subset
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
gene_encodes_gene_product
- Exostosin-1 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- EXT1 Gene Mutation [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Hereditary Multiple Exostoses [NCIt concept]
- Osteochondroma [NCIt concept]
- Trichorhinophalangeal Syndrome Type II [NCIt concept]
gene_mapped_to_disease
- Childhood Osteochondroma [NCIt concept]
- Maxillofacial Osteochondroma [NCIt concept]
- Multiple Osteochondromas [NCIt concept]
- Osteochondroma [NCIt concept]
- Solitary Osteochondroma [NCIt concept]
- Trichorhinophalangeal Syndrome Type II [NCIt concept]
gene_plays_role_in_process
- Glycosylation [NCIt concept]
- Heparan Sulfate Biosynthesis [NCIt concept]
- Limb Development [NCIt concept]
- Skeletal Development [NCIt concept]
- Tumor Suppression [NCIt concept]

Keyword's position in hierarchy(ies) :

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