SCN1A Gene - CISMeF

Preferred Label : SCN1A Gene;

NCIt synonyms : Sodium Voltage-Gated Channel Alpha Subunit 1 Gene;

NCIt related terms : SCN1A;

CISMeF acronym : SCN1A;

NCIt definition : This gene is involved in sodium transport.;

Détails

Origin ID

C102447;

UMLS CUI

C1419856;

Automatic exact mappings (from CISMeF team)
- SCN1A gene [LOINC component]
- Sodium voltage-gated channel, alpha subunit 1 [OMIM gene]
- sodium voltage-gated channel alpha subunit 1 [ORDO Gene]
HGNC gene
- sodium voltage-gated channel alpha subunit 1 [HGNC gene]
OMIM relation
- Sodium voltage-gated channel, alpha subunit 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- SCN1A gene [LOINC component]
- Sodium voltage-gated channel, alpha subunit 1 [OMIM gene]
- sodium voltage-gated channel alpha subunit 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
- Sodium Channel Protein Type 1 Subunit Alpha [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_mapped_to_disease
- Developmental and Epileptic Encephalopathy 6A [NCIt concept]
- Dravet Syndrome [NCIt concept]
- Familial Hemiplegic Migraine-3 [NCIt concept]
- Febrile Seizures, Familial, 3A [NCIt concept]
gene_plays_role_in_process
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]
- Voltage-Gated Sodium Ion Channel Activation [NCIt concept]
genetic_biomarker_related_to
- Generalized Epilepsy with Febrile Seizures Plus [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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