LDLR Gene - CISMeF

Preferred Label : LDLR Gene;

NCIt synonyms : LDLR; Low Density Lipoprotein Receptor Gene;

CISMeF acronym : LDLR;

NCIt definition : This gene plays a role in the modulation of ligand-specific receptor-mediated endocytosis, and also plays a regulatory role in cholesterol synthesis.;

Details

Origin ID

C28607;

UMLS CUI

C1366529;

HGNC gene
- low density lipoprotein receptor [HGNC gene]
OMIM relation
- Low density lipoprotein receptor [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- LDLR gene [LOINC component]
- Low density lipoprotein receptor [OMIM gene]
- Low density lipoprotein receptor gene (substance) [SNOMED CT concept]
- low density lipoprotein receptor [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_associated_with_disease
- Hypercholesterolemia [NCIt concept]
gene_encodes_gene_product
- Low-Density Lipoprotein Receptor [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_mapped_to_disease
- Hyperlipoproteinemia, Type IIa [NCIt concept]
gene_plays_role_in_process
- Cholesterol Homeostasis [NCIt concept]
- Ligand Binding [NCIt concept]
- Receptor Mediated Endocytosis [NCIt concept]
- Receptor Signaling [NCIt concept]
genetic_biomarker_related_to
- Hyperlipoproteinemia, Type IIa [NCIt concept]

Keyword's position in hierarchy(ies) :

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