Gene-Disorder Association · Article
Gene
SH2B3 SH2B Adaptor Protein 3
×
First reported
1950
Supporting publications
1
Manually curated Approved treatment annotated
Association Review
In brief The association between SH2B3 (SH2B Adaptor Protein 3) and Myelofibrosis is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and likely-pathogenic variants.
Sources
3
Clinical variants
8
Symptoms
45
Compounds
1
Trials
103 of 366 via SH2B3 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 3 sources
Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.
Request access 1 source summary
A gene summary alongside the source descriptions it was distilled from.
Request access 04
Myelofibrosis
The disorder 19 database identifiers
The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).
Request access 05
Phenotype
Clinical features 39 clinical features
The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.
Request access 06
ClinVar and variant evidence
Genetic basis 8 clinical variants
ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.
Request access 07
Mechanism overlap
Shared mechanisms Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.
Request access 08
Interventions
Therapeutics 1 compound or drug
Gene-targeting drugs and associated compounds, with class, approval status, mechanism, indications and trials.
Request access 09
Human studies
Clinical trials 366 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 11
Provenance
References & sources 9 references
Every source and publication cited across this dossier, as one numbered reference list.
Request access 
