ABCC8 Gene - CISMeF

Preferred Label : ABCC8 Gene;

NCIt synonyms : ATP Binding Cassette Subfamily C Member 8 Gene;

NCIt related terms : ABCC8;

NCIt definition : This gene is involved in the regulation of ATP-dependent potassium ion channels and insulin release.;

Details

Origin ID

C191883;

UMLS CUI

C1412082;

HGNC gene
- ATP binding cassette subfamily C member 8 [HGNC gene]
OMIM relation
- Atp-binding cassette, subfamily C, member 8 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- ABCC8 gene [LOINC component]
- ATP binding cassette subfamily C member 8 [HGNC gene]
- Atp-binding cassette, subfamily C, member 8 [OMIM gene]
gene_encodes_gene_product
- ATP-Binding Cassette Sub-Family C Member 8 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_mapped_to_disease
- Diffuse KATP-Associated Hyperinsulinism [NCIt concept]
- Focal KATP-Associated Hyperinsulinism [NCIt concept]
- Persistent Hyperinsulinemic Hypoglycemia of Infancy [NCIt concept]
- SUR1-Associated Diabetes Mellitus [NCIt concept]
gene_plays_role_in_process
- ATP Hydrolysis [NCIt concept]
- Homeostatic Process [NCIt concept]
- Hormone Activity Induction [NCIt concept]
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Transport Process [NCIt concept]
genetic_biomarker_related_to
- Focal KATP-Associated Hyperinsulinism [NCIt concept]
- K ATP Associated Developmental Delay, Epilepsy and Neonatal Diabetes [NCIt concept]
- K ATP Associated Transient Neonatal Diabetes Mellitus [NCIt concept]
- K ATP Channel-Associated Diabetes Mellitus [NCIt concept]
- K ATP Permanent Neonatal Diabetes [NCIt concept]

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