Gene-Disorder Association · Article
First reported
1955
Supporting publications
1
Manually curated Approved treatment annotated
Association Review
In brief The association between NPM1 (Nucleophosmin 1) and Acute Myeloid Leukemia With Maturation is a manually-curated gene–disease association, drawing on a single expert-curated source, which records causative variation.
Sources
1
Clinical variants
0
Symptoms
0
Compounds
2
Trials
203 of 723 via NPM1 compounds
Publications
1
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.
Request access 02
Provenance
Evidence and sources 1 source
Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.
Request access 2 source summaries
A gene summary alongside the source descriptions it was distilled from.
Request access 04
Acute Myeloid Leukemia With Maturation
The disorder 9 database identifiers
The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).
Request access 05
Population genetics
GWAS signals 1 GWAS phenotype
Gene-associated GWAS phenotypes matching the disorder, with best SNP, score, risk-allele frequency and effect size.
Request access 06
Interventions
Therapeutics 2 compounds & drugs
Gene-targeting drugs and associated compounds, with class, approval status, mechanism, indications and trials.
Request access 07
Human studies
Clinical trials 723 clinical trials
Clinical trials reached through the pair’s compounds, keeping disorder-targeting trials separate from other indications.
Request access 1 publication
Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.
Request access 09
Provenance
References & sources 7 references
Every source and publication cited across this dossier, as one numbered reference list.
Request access 
