PDCD1 wt Allele

Preferred Label : PDCD1 wt Allele;

NCIt synonyms : PD1; SLEB2; Programmed Cell Death 1 wt Allele; hPD-l; hPD-1; CD279; hSLE1; Systemic Lupus Erythematosus Susceptibility 2 Gene; PD-1;

NCIt definition : Human PDCD1 wild-type allele is located in the vicinity of 2q37.3 and is approximately 9 kb in length. This allele, which encodes programmed cell death protein 1, plays a role in the modulation of both apoptosis and cellular immunity. Mutation of the gene is associated with systemic lupus erythematosus type 2.;

GenBank Accession Number : AY206416;

Details

Origin ID

C94696;

UMLS CUI

C2986634;

OMIM relation
- Programmed cell death 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_associated_with_disease
- Systemic Lupus Erythematosus [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Cell Adhesion Molecule Signaling Pathway [NCIt concept]
- T Cell Receptor Signaling Pathway KEGG [NCIt concept]
gene_plays_role_in_process
- Apoptosis [NCIt concept]
- Humoral Immunity [NCIt concept]

Keyword's position in hierarchy(ies) :

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