LPL wt Allele - CISMeF

Preferred Label : LPL wt Allele;

NCIt synonyms : LIPD; Lipoprotein Lipase wt Allele; HDLCQ11;

NCIt definition : Human LPL wild-type allele is located in the vicinity of 8p21.3 and is approximately 66 kb in length. This allele, which encodes lipoprotein lipase, plays a role in both triglyceride metabolism and lipoprotein uptake. Mutations in this gene are associated with several disorders of lipoprotein metabolism.;

GenBank Accession Number : NM_000237;

Details

Origin ID

C104615;

UMLS CUI

C3540529;

Automatic exact mappings (from CISMeF team)
- Hyperlipoproteinemia, type I [OMIM Phenotype]
- Lipoprotein lipase [OMIM Phenotype]
- lipoprotein lipase [ORDO Gene]
OMIM relation
- Lipoprotein lipase [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 8p21.3 [NCIt concept]
gene_is_element_in_pathway
- Alzheimer's Disease Pathway KEGG [NCIt concept]
- Glycerolipid Metabolism Pathway [NCIt concept]
- LDL Pathway [NCIt concept]
- Metabolic Syndrome Pathway [NCIt concept]
- Obesity and Thermogenesis Pathway [NCIt concept]
- PPAR Signaling Pathway [NCIt concept]
- PPAR-alpha Gene Regulation Pathway [NCIt concept]
gene_plays_role_in_process
- Hydrolysis [NCIt concept]
- Lipid Metabolic Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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