CYP21A2 Gene - CISMeF

Preferred Label : CYP21A2 Gene;

NCIt synonyms : CYP21A2; Cytochrome P450, Family 21, Subfamily A, Polypeptide 2 Gene;

CISMeF acronym : CYP21A2;

NCIt definition : This gene plays a role in steroid metabolism.;

Details

Origin ID

C40070;

UMLS CUI

C1413861;

Automatic exact mappings (from CISMeF team)
- CYP21A2 gene [LOINC component]
- Cytochrome p450 CYP21A2 enzyme (substance) [SNOMED CT concept]
- Cytochrome p450, family 21, subfamily a, polypeptide 2 [OMIM gene]
- cytochrome P450 family 21 subfamily A member 2 [ORDO Gene]
HGNC gene
- cytochrome P450 family 21 subfamily A member 2 [HGNC gene]
OMIM relation
- Cytochrome p450, family 21, subfamily a, polypeptide 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- CYP21A2 gene [LOINC component]
- Cytochrome p450, family 21, subfamily a, polypeptide 2 [OMIM gene]
- cytochrome P450 family 21 subfamily A member 2 [HGNC gene]
gene_associated_with_disease
- Adrenal Cortical Hyperplasia [NCIt concept]
gene_encodes_gene_product
- Steroid 21-Hydroxylase [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_mapped_to_disease
- 21-Hydroxylase Deficiency [NCIt concept]
- Adrenal Gland Hyperplasia III [NCIt concept]
- Salt-Wasting 21-Hydroxylase Deficiency [NCIt concept]
- Simple Virilizing 21-Hydroxylase Deficiency [NCIt concept]
gene_plays_role_in_process
- Detoxification [NCIt concept]
- Intermediary Metabolic Process [NCIt concept]
- Iron Chelation [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]
- Steroid Metabolic Process [NCIt concept]
genetic_biomarker_related_to
- Steroid 21-Monooxygenase Deficiency [NCIt concept]

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