PICALM wt Allele

Preferred Label : PICALM wt Allele;

NCIt synonyms : CALM; LAP; CLTH; Phosphatidylinositol Binding Clathrin Assembly Protein wt Allele;

NCIt definition : Human PICALM wild-type allele is located in the vicinity of 11q14 and is approximately 112 kb in length. This allele, which encodes phosphatidylinositol-binding clathrin assembly protein, is involved in the modulation of receptor mediated endocytosis. Genetic variation may be associated with Alzheimer's Disease. Diffuse histiocytic lymphomas are associated with a translocation, t(10;11)(p13;q14), involving this gene and the MLLT10 gene.;

GenBank Accession Number : BC048259;

Details

Origin ID

C84435;

UMLS CUI

C2827449;

Currated CISMeF NLP mapping
- Calming (procedure) [SNOMED CT concept]
False automatic mappings
- Laryngeal adductor paralysis [OMIM Phenotype]
OMIM relation
- Phosphatidylinositol-binding clathrin assembly protein [OMIM gene]
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_associated_with_disease
- Alzheimer's Disease [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 11q14 [NCIt concept]
gene_plays_role_in_process
- Receptor Mediated Endocytosis [NCIt concept]

Keyword's position in hierarchy(ies) :

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