Gene-Disorder Association · Article
First reported
1950
Supporting publications
15
Manually curated Approved treatment annotated
Association Review
In brief The association between JAK2 (Janus Kinase 2) and Leukemia, Acute Myeloid is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.
Sources
4
Clinical variants
11
Symptoms
5
Compounds
3
Trials
90 of 118 via JAK2 compounds
Publications
15
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 4 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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Leukemia, Acute Myeloid
The disorder 27 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 11 clinical variants
ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.
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Population genetics
GWAS signals 1 GWAS phenotype
Gene-associated GWAS phenotypes matching the disorder, with best SNP, score, risk-allele frequency and effect size.
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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 3 compounds & drugs
Gene-targeting drugs and associated compounds, with class, approval status, mechanism, indications and trials.
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Human studies
Clinical trials 118 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 21 references
Every source and publication cited across this dossier, as one numbered reference list.
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