Gene-Disorder Association · Article
Gene
RB1 RB Transcriptional Corepressor 1
×
First reported
1990
Supporting publications
12
Manually curated Approved treatment annotated
Association Review
In brief The association between RB1 (RB Transcriptional Corepressor 1) and Small Cell Cancer Of The Lung is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic variants and causative variation.
Sources
3
Clinical variants
30
Symptoms
4
Compounds
2
Trials
175 of 3,698 via RB1 compounds
Publications
12
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 3 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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Small Cell Cancer Of The Lung
The disorder 12 database identifiers
The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).
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Phenotype
Clinical features 1 clinical feature
The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.
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ClinVar and variant evidence
Genetic basis 30 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 1 shared pathway
Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.
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Interventions
Therapeutics 2 compounds & drugs
Gene-targeting drugs and associated compounds, with class, approval status, mechanism, indications and trials.
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Human studies
Clinical trials 3,698 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 18 references
Every source and publication cited across this dossier, as one numbered reference list.
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