KCNQ1 Gene - CISMeF

Preferred Label : KCNQ1 Gene;

NCIt synonyms : KCNQ1; Potassium Voltage-Gated Channel, KQT-Like Subfamily, Member 1 Gene;

CISMeF acronym : KCNQ1;

NCIt definition : This gene is involved in both potassium transport and cardiac repolarization.;

Détails

Origin ID

C75622;

UMLS CUI

C1416612;

Automatic exact mappings (from CISMeF team)
- KCNQ1 gene [LOINC component]
- Potassium channel, voltage-gated, kqt-like subfamily, member 1 [OMIM gene]
- potassium voltage-gated channel subfamily Q member 1 [ORDO Gene]
HGNC gene
- potassium voltage-gated channel subfamily Q member 1 [HGNC gene]
OMIM relation
- Potassium channel, voltage-gated, kqt-like subfamily, member 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- KCNQ1 gene [LOINC component]
- Potassium channel, voltage-gated, kqt-like subfamily, member 1 [OMIM gene]
- potassium voltage-gated channel subfamily Q member 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
- Potassium Voltage-Gated Channel Subfamily KQT Member 1 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_mapped_to_disease
- Jervell and Lange Nielsen Syndrome [NCIt concept]
- Long QT Syndrome 1 [NCIt concept]
gene_plays_role_in_process
- Cardiac Muscle Contraction [NCIt concept]
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Neuronal Transmission [NCIt concept]
- Potassium Channel Binding [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]
- Voltage-Gated Potassium Ion Channel Activation [NCIt concept]
genetic_biomarker_related_to
- Short QT Syndrome [NCIt concept]

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