PER1 wt Allele

Preferred Label : PER1 wt Allele;

NCIt synonyms : hPER; RIGUI; MGC88021; KIAA0482; PER; Period Homolog 1 (Drosophila) wt Allele; Period Circadian Regulator 1 Gene; Period Homolog 1 Gene; Period (Drosophila) Homolog 1 Gene; Period, Drosophila, Homolog of Gene; Period Circadian Clock 1 Gene;

NCIt definition : Human PER1 wild-type allele is located in the vicinity of 17p13.1 and is approximately 16 kb in length. This allele, which encodes period circadian protein homolog 1, plays a role in the maintenance of circadian rhythm. A chromosomal translocation t(12;17)(p13;p12-p13) of this gene and the ETV6 gene was observed in a patient with acute myeloid leukemia evolving from a chronic myelomonocytic leukemia.;

GenBank Accession Number : AB002107;

Details

Origin ID

C97722;

UMLS CUI

C3273590;

Automatic exact mappings (from CISMeF team)
- PER (body structure) [SNOMED CT concept]
- Per - dosing instruction fragment (qualifier value) [SNOMED CT concept]
- Period circadian regulator 1 [OMIM gene]
- Stiff-person syndrome [OMIM Phenotype]
- receptors, proteinase-activated [MeSH Descriptor]
OMIM relation
- Period circadian regulator 1 [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_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17p13.1 [NCIt concept]
gene_is_element_in_pathway
- Circadian Rhythm Pathway BioCarta [NCIt concept]
- Circadian Rhythm Pathway KEGG [NCIt concept]
- Circadian Rhythm Pathway PID [NCIt concept]
gene_plays_role_in_process
- Biological Rhythm [NCIt concept]

Keyword's position in hierarchy(ies) :

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