CACNA1D wt Allele

Preferred Label : CACNA1D wt Allele;

NCIt synonyms : Calcium Channel, Voltage-Dependent, L Type, Alpha-1D Subunit Gene; CACH3; PASNA; Cav1.3; CCHL1A2; CACNL1A2; SANDD; CACN4; Calcium Channel, Voltage-Dependent, L Type, Alpha 1D Subunit Gene; Calcium Voltage-Gated Channel Subunit Alpha1 D wt Allele;

NCIt definition : Human CACNA1D wild-type allele is located in the vicinity of 3p14.3 and is approximately 318 kb in length. This allele, which encodes voltage-dependent L-type calcium channel subunit alpha-1D protein, plays a role in voltage-dependent membrane polarization. Mutation of the gene is associated with sinoatrial node dysfunction and deafness.;

GenBank Accession Number : AB209171;

Details

Origin ID

C113770;

UMLS CUI

C3811235;

Automatic exact mappings (from CISMeF team)
- Calcium channel, voltage-dependent, L type, alpha-1d subunit [OMIM gene]
- Primary aldosteronism, seizures, and neurologic abnormalities [OMIM Phenotype]
- Sinoatrial node dysfunction and deafness [OMIM Phenotype]
- calcium voltage-gated channel subunit alpha1 D [ORDO Gene]
OMIM relation
- Calcium channel, voltage-dependent, L type, alpha-1d subunit [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Aldosterone-Producing Adrenal Cortical Adenoma [NCIt concept]
gene_is_element_in_pathway
- Alzheimer's Disease Pathway KEGG [NCIt concept]
- Arrhythmogenic Right Ventricular Cardiomyopathy Pathway [NCIt concept]
- Calcium-Mediated Signaling Pathway [NCIt concept]
- Cardiac Muscle Contraction Pathway [NCIt concept]
- Dilated Cardiomyopathy Pathway [NCIt concept]
- Gonadotropin-Releasing Hormone Signaling Pathway [NCIt concept]
- Hypertrophic Cardiomyopathy Pathway [NCIt concept]
- MAPK Signaling Pathway [NCIt concept]
- Type II Diabetes Mellitus Pathway [NCIt concept]
- Vascular Smooth Muscle Contraction Pathway [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) :

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