KCNH2 Gene - CISMeF

Preferred Label : KCNH2 Gene;

NCIt synonyms : KCNH2; Potassium Voltage-Gated Channel Subfamily H Member 2 Gene;

NCIt definition : This gene plays a role in the regulation of pore formation for inwardly rectifying potassium channels.;

Détails

Origin ID

C202636;

UMLS CUI

C1416572;

HGNC gene
- potassium voltage-gated channel subfamily H member 2 [HGNC gene]
OMIM relation
- Potassium channel, voltage-gated, subfamily h, member 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- KCNH2 gene [LOINC component]
- Potassium channel, voltage-gated, subfamily h, member 2 [OMIM gene]
- potassium voltage-gated channel subfamily H member 2 [HGNC gene]
gene_encodes_gene_product
- Voltage-Gated Inwardly Rectifying Potassium Channel KCNH2 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_mapped_to_disease
- Long QT Syndrome 2 [NCIt concept]
gene_plays_role_in_process
- Cardiac Muscle Contraction [NCIt concept]
- Ion Transport Process [NCIt concept]
- Ligand Binding [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]

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

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients