HSD3B1 Gene - CISMeF

Preferred Label : HSD3B1 Gene;

NCIt synonyms : Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- and Steroid Delta-Isomerase 1 Gene;

NCIt related terms : HSD3B1;

CISMeF acronym : HSD3B1;

NCIt definition : This gene plays a role in both ketosteroid metabolism and hormonal steroid biosynthesis.;

Details

Origin ID

C114367;

UMLS CUI

C1415742;

Automatic exact mappings (from CISMeF team)
- 3-beta-hydroxysteroid dehydrogenase 1 [OMIM gene]
HGNC gene
- hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 [HGNC gene]
OMIM relation
- 3-beta-hydroxysteroid dehydrogenase 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- 3-beta-hydroxysteroid dehydrogenase 1 [OMIM gene]
- hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 [HGNC gene]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Reference Gene Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- 3 Beta-Hydroxysteroid Dehydrogenase/Delta 5->4-Isomerase Type 1 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- HSD3B1 Gene Mutation [NCIt concept]
- HSD3B1 NM_000862.2:c.1100= [NCIt concept]
- HSD3B1 NM_000862.2:c.1100C>A [NCIt concept]
- HSD3B1 NP_000853.1:p.T367= [NCIt concept]
- HSD3B1 NP_000853.1:p.T367N [NCIt concept]
- HSD3B1 Protein Variant [NCIt concept]
gene_plays_role_in_process
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]
- Steroid Metabolic Process [NCIt concept]
genetic_biomarker_related_to
- Adrenal-Permissive HSD3B1 Genotype [NCIt concept]
- Adrenal-Restrictive HSD3B1 Genotype [NCIt concept]

Keyword's position in hierarchy(ies) :

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