PNLIP wt Allele

Preferred Label : PNLIP wt Allele;

NCIt synonyms : PNLIPD; Pancreatic Lipase wt Allele; Lipase, Pancreatic Gene; PL; PTL;

NCIt definition : Human PNLIP wild-type allele is located in the vicinity of 10q25.3 and is approximately 22 kb in length. This allele, which encodes pancreatic triacylglycerol lipase protein, plays a role in fat metabolism. Homozygous mutations of this gene are associated with pancreatic lipase deficiency.;

NCI Metathesaurus CUI : CL1798628;

GenBank Accession Number : BC014309;

Details

Origin ID

C189796;

UMLS CUI

C5702838;

Automatic exact mappings (from CISMeF team)
- Acetyl-coa acyltransferase 1 [OMIM gene]
- Chorionic somatomammotropin hormone 1 [OMIM gene]
- Posterolateral auditory cortex [FMA entity]
False automatic mappings
- With (attribute) [SNOMED CT concept]
OMIM relation
- Pancreatic lipase [OMIM gene]
See also inter- (CISMeF)
- Pancreatic lipase deficiency [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- Pancreatic lipase [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 10q25.3 [NCIt concept]
gene_is_element_in_pathway
- Glycerolipid Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Fatty Acid Metabolism [NCIt concept]
- Hydrolysis [NCIt concept]
- Triglyceride Metabolism [NCIt concept]

Keyword's position in hierarchy(ies) :

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