PIK3CD wt Allele

Preferred Label : PIK3CD wt Allele;

NCIt synonyms : PI3K; PI3K-DELTA; APDS; Phosphoinositide-3-Kinase, Catalytic, Delta Polypeptide Gene; Phosphoinositide-3-Kinase, Catalytic, 110-kD Delta Gene; IMD14; RP11-558F24.3; PIK3-DELTA; P110DELTA; p110D; Phosphoinositide-3-Kinase, Catalytic, Delta Gene; Phosphatidylinositol-4,5-Bisphosphate 3-Kinase, Catalytic Subunit Delta wt Allele; p110-DELTA;

NCIt definition : Human PIK3CD wild-type allele is located in the vicinity of 1p36.2 and is approximately 77 kb in length. This allele, which encodes phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform protein, is involved in both immunity and second messenger signaling.;

GenBank Accession Number : NM_005026;

Details

Origin ID

C113629;

UMLS CUI

C3714973;

Automatic exact mappings (from CISMeF team)
- 1-phosphatidylinositol-3-kinase activity [GO term]
- Activated PI3K-delta syndrome [ORDO Disease]
- Auditory processing disorder [ICD-11 More detail]
- Immunodeficiency 14a with lymphoproliferation, autosomal dominant [OMIM Phenotype]
- Phosphatidylinositol 3-kinase, catalytic, delta [OMIM gene]
- Pupil afferent light reaction normal (finding) [SNOMED CT concept]
- immunodeficiency 14 [DO Concept]
- phosphatidylinositol 3-Kinase [MeSH Descriptor]
- phosphatidylinositol 3-Kinases [MeSH Descriptor]
- phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha [ORDO Gene]
- phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta [ORDO Gene]
OMIM relation
- Phosphatidylinositol 3-kinase, catalytic, delta [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
- 1p36.2 [NCIt concept]
gene_is_element_in_pathway
- Actin Cytoskeleton Regulation Pathway [NCIt concept]
- Acute Myeloid Leukemia Pathway [NCIt concept]
- Aldosterone-Regulated Sodium Reabsorption Pathway [NCIt concept]
- Amoebiasis Pathway [NCIt concept]
- Apoptosis Pathway [NCIt concept]
- B Cell Receptor Signaling Pathway [NCIt concept]
- Bacterial Invasion of Epithelial Cell Pathway [NCIt concept]
- Chagas Disease Pathway [NCIt concept]
- Chemokine Signaling Pathway [NCIt concept]
- Chronic Myeloid Leukemia Pathway [NCIt concept]
- Colorectal Cancer Pathway [NCIt concept]
- ERBB Family Signaling Pathway [NCIt concept]
- Endometrial Cancer Pathway [NCIt concept]
- Fc Epsilon Receptor I Signaling Pathway KEGG [NCIt concept]
- Fc Gamma Receptor-Mediated Phagocytosis Pathway [NCIt concept]
- Focal Adhesion Pathway [NCIt concept]
- Glioblastoma Multiforme Pathway [NCIt concept]
- Inositol Phosphate Metabolism Pathway [NCIt concept]
- Insulin/Insulin Receptor Signaling Pathway [NCIt concept]
- Jak-STAT Signaling Pathway [NCIt concept]
- Leukocyte Transendothelial Migration Pathway [NCIt concept]
- Melanoma Pathway [NCIt concept]
- Natural Killer Cell-Mediated Cytotoxicity Pathway [NCIt concept]
- Neurotrophin Signaling Pathway [NCIt concept]
- Non-Small Cell Lung Cancer Pathway [NCIt concept]
- Pancreatic Cancer Pathway [NCIt concept]
- Phosphatidylinositol Signaling System Pathway [NCIt concept]
- Progesterone-Mediated Oocyte Maturation Pathway [NCIt concept]
- Renal Cell Carcinoma Pathway [NCIt concept]
- Small Cell Lung Cancer Pathway [NCIt concept]
- T Cell Receptor Signaling Pathway KEGG [NCIt concept]
- Toll-Like Receptor Signaling Pathway [NCIt concept]
- Type II Diabetes Mellitus Pathway [NCIt concept]
- VEGF Signaling Pathway [NCIt concept]
- mTOR Signaling Pathway KEGG [NCIt concept]
gene_plays_role_in_process
- Immune Cell Activation Process [NCIt concept]
- Immunity [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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