PIK3CA Gene - CISMeF

Preferred Label : PIK3CA Gene;

NCIt synonyms : Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha Gene;

NCIt related terms : PIK3CA;

CISMeF acronym : PIK3CA;

NCIt definition : This gene is involved in second messenger signaling, apoptosis, cell growth and angiogenesis.;

Details

Origin ID

C21220;

UMLS CUI

C1335212;

Automatic exact mappings (from CISMeF team)
- PIK3CA gene [LOINC component]
- Phosphatidylinositol 3-kinase, catalytic, alpha [OMIM gene]
- phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha [ORDO Gene]
HGNC gene
- phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha [HGNC gene]
OMIM relation
- Phosphatidylinositol 3-kinase, catalytic, alpha [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- PIK3CA gene [LOINC component]
- Phosphatidylinositol 3-kinase, catalytic, alpha [OMIM gene]
- phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha [HGNC gene]
concept_is_in_subset
- CCPS Genetics Terminology [NCIt concept]
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Reference Gene Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
gene_encodes_gene_product
- Phosphatidylinositol 4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha Isoform [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- Activating PIK3CA Gene Mutation [NCIt concept]
- PIK3CA Exon 20 Mutation [NCIt concept]
- PIK3CA Exon 9 Mutation [NCIt concept]
- PIK3CA Gene Amplification [NCIt concept]
- PIK3CA Gene Mutation [NCIt concept]
- PIK3CA Gene Rearrangement [NCIt concept]
- PIK3CA NM_006218.1:c.1258T>C [NCIt concept]
- PIK3CA NM_006218.1:c.1624G>A [NCIt concept]
- PIK3CA NM_006218.1:c.1624G>C [NCIt concept]
- PIK3CA NM_006218.1:c.1625A>G [NCIt concept]
- PIK3CA NM_006218.1:c.1625A>T [NCIt concept]
- PIK3CA NM_006218.1:c.1633G>A [NCIt concept]
- PIK3CA NM_006218.1:c.1633G>C [NCIt concept]
- PIK3CA NM_006218.1:c.1634A>C [NCIt concept]
- PIK3CA NM_006218.1:c.1634A>G [NCIt concept]
- PIK3CA NM_006218.1:c.1634A>T [NCIt concept]
- PIK3CA NM_006218.1:c.1635G>C [NCIt concept]
- PIK3CA NM_006218.1:c.1635G>T [NCIt concept]
- PIK3CA NM_006218.1:c.3139C>T [NCIt concept]
- PIK3CA NM_006218.1:c.3140A>G [NCIt concept]
- PIK3CA NM_006218.1:c.3140A>T [NCIt concept]
- PIK3CA NM_006218.1:c.3141T>G [NCIt concept]
- PIK3CA NM_006218.4:c.1035T>A [NCIt concept]
- PIK3CA NM_006218.4:c.263G>A [NCIt concept]
- PIK3CA NM_006218.4:c.3129G>A [NCIt concept]
- PIK3CA NM_006218.4:c.3129G>C [NCIt concept]
- PIK3CA NM_006218.4:c.3129G>T [NCIt concept]
- PIK3CA NM_006218.4:c.3145G>C [NCIt concept]
- PIK3CA NP_006209.2:p.C420R [NCIt concept]
- PIK3CA NP_006209.2:p.E542G [NCIt concept]
- PIK3CA NP_006209.2:p.E542K [NCIt concept]
- PIK3CA NP_006209.2:p.E542Q [NCIt concept]
- PIK3CA NP_006209.2:p.E542V [NCIt concept]
- PIK3CA NP_006209.2:p.E542X [NCIt concept]
- PIK3CA NP_006209.2:p.E545A [NCIt concept]
- PIK3CA NP_006209.2:p.E545D [NCIt concept]
- PIK3CA NP_006209.2:p.E545G [NCIt concept]
- PIK3CA NP_006209.2:p.E545K [NCIt concept]
- PIK3CA NP_006209.2:p.E545Q [NCIt concept]
- PIK3CA NP_006209.2:p.E545V [NCIt concept]
- PIK3CA NP_006209.2:p.E545X [NCIt concept]
- PIK3CA NP_006209.2:p.G1049R [NCIt concept]
- PIK3CA NP_006209.2:p.H1047L [NCIt concept]
- PIK3CA NP_006209.2:p.H1047Q [NCIt concept]
- PIK3CA NP_006209.2:p.H1047R [NCIt concept]
- PIK3CA NP_006209.2:p.H1047T [NCIt concept]
- PIK3CA NP_006209.2:p.H1047X [NCIt concept]
- PIK3CA NP_006209.2:p.H1047Y [NCIt concept]
- PIK3CA NP_006209.2:p.M1043I [NCIt concept]
- PIK3CA NP_006209.2:p.N345K [NCIt concept]
- PIK3CA NP_006209.2:p.Q546X [NCIt concept]
- PIK3CA NP_006209.2:p.R88Q [NCIt concept]
- PIK3CA Protein Variant [NCIt concept]
gene_mapped_to_disease
- Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal/Spinal Abnormalities Syndrome [NCIt concept]
- Hemimegalencephaly [NCIt concept]
- PIK3CA-Related Overgrowth Spectrum [NCIt concept]
gene_plays_role_in_process
- Phosphorylation Process [NCIt concept]
- Signal Transduction [NCIt concept]
genetic_biomarker_related_to
- Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal/Spinal Abnormalities Syndrome [NCIt concept]
- PIK3CA Gene Alteration Positive [NCIt concept]
- PIK3CA Gene Mutation Negative [NCIt concept]
- PIK3CA-Related Overgrowth Spectrum [NCIt concept]

Keyword's position in hierarchy(ies) :

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