Gene-Disorder Association · Article
Gene
PTEN Phosphatase And Tensin Homolog
×
First reported
1997
Supporting publications
79
Manually curated Approved treatment annotated
Association Review
In brief The association between PTEN (Phosphatase And Tensin Homolog) and Glioma is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.
Sources
2
Clinical variants
3
Symptoms
0
Compounds
2
Trials
12 of 295 via PTEN compounds
Publications
79
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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02
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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2 source summaries
A gene summary alongside the source descriptions it was distilled from.
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1 database identifier
The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).
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05
ClinVar and variant evidence
Genetic basis 3 clinical variants
ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.
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06
Interventions
Therapeutics 2 compounds & drugs
Gene-targeting drugs and associated compounds, with class, approval status, mechanism, indications and trials.
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07
Human studies
Clinical trials 295 clinical trials
Clinical trials reached through the pair’s compounds, keeping disorder-targeting trials separate from other indications.
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79 publications
Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.
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09
Provenance
References & sources 14 references
Every source and publication cited across this dossier, as one numbered reference list.
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