Gene-Disorder Association · Article
Gene
RARA Retinoic Acid Receptor Alpha
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First reported
1991
Supporting publications
114
Manually curated Approved treatment annotated
Association Review
In brief The association between RARA (Retinoic Acid Receptor Alpha) and Acute Promyelocytic Leukemia is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis.
Sources
3
Clinical variants
0
Symptoms
41
Compounds
2
Trials
41 of 434 via RARA compounds
Publications
114
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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Acute Promyelocytic Leukemia
The disorder 11 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 38 clinical features
The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.
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Mechanism overlap
Shared mechanisms 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 434 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 17 references
Every source and publication cited across this dossier, as one numbered reference list.
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