Gene-Disorder Association · Article
Gene
PIK3CA Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha
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First reported
2005
Supporting publications
17
Manually curated Approved treatment annotated
Association Review
In brief The association between PIK3CA (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha) and Lung Non-Small Cell Carcinoma is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.
Sources
2
Clinical variants
7
Symptoms
0
Compounds
19
Trials
2,809 of 15,040 via PIK3CA compounds
Publications
17
Contents
01
At a glance
Association overview A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.
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Provenance
Evidence and sources 2 sources
Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.
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A gene summary alongside the source descriptions it was distilled from.
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Lung Non-Small Cell Carcinoma
The disorder 6 database identifiers
The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).
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ClinVar and variant evidence
Genetic basis 7 clinical variants
ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.
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Mechanism overlap
Shared mechanisms 2 shared pathways
Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.
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Interventions
Therapeutics 19 compounds & drugs
Gene-targeting drugs and associated compounds, with class, approval status, mechanism, indications and trials.
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Human studies
Clinical trials 15,040 clinical trials
Clinical trials reached through the pair’s compounds, keeping disorder-targeting trials separate from other indications.
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Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.
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Provenance
References & sources 20 references
Every source and publication cited across this dossier, as one numbered reference list.
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