CACNA1A Gene - CISMeF

Preferred Label : CACNA1A Gene;

NCIt synonyms : Calcium Voltage-Gated Channel Subunit Alpha1 A Gene; CACNA1A;

NCIt definition : This gene plays a role in pore formation for neuronal voltage-dependent calcium channels.;

Details

Origin ID

C191380;

UMLS CUI

C1456413;

HGNC gene
- calcium voltage-gated channel subunit alpha1 A [HGNC gene]
OMIM relation
- Calcium channel, voltage-dependent, p/q type, alpha-1a subunit [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- CACNA1A gene [LOINC component]
- Calcium channel, voltage-dependent, p/q type, alpha-1a subunit [OMIM gene]
- calcium voltage-gated channel subunit alpha1 A [HGNC gene]
gene_encodes_gene_product
- Voltage-Dependent P/Q-Type Calcium Channel Subunit Alpha-1A [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_mapped_to_disease
- Developmental and Epileptic Encephalopathy 42 [NCIt concept]
- Episodic Ataxia Type 2 [NCIt concept]
- Familial Hemiplegic Migraine-1 [NCIt concept]
- Spinocerebellar Ataxia Type 6 [NCIt concept]
gene_plays_role_in_process
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Neuronal Transmission [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients