NPC1 Gene - CISMeF

Preferred Label : NPC1 Gene;

NCIt synonyms : NPC1; NPC Intracellular Cholesterol Transporter 1 Gene;

NCIt definition : This gene plays a role in cholesterol transport and homeostasis.;

Details

Origin ID

C203989;

UMLS CUI

C1417776;

HGNC gene
- NPC intracellular cholesterol transporter 1 [HGNC gene]
OMIM relation
- Npc intracellular cholesterol transporter 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- NPC intracellular cholesterol transporter 1 [HGNC gene]
- NPC1 gene [LOINC component]
- Npc intracellular cholesterol transporter 1 [OMIM gene]
gene_encodes_gene_product
- NPC Intracellular Cholesterol Transporter 1 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_mapped_to_disease
- Niemann-Pick Disease, Type C1 [NCIt concept]
- Niemann-Pick Disease, Type C2 [NCIt concept]
gene_plays_role_in_process
- Autophagy [NCIt concept]
- Cholesterol Homeostasis [NCIt concept]
- Endocytotic Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Lipid Transport [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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