Gene-Disorder Association · Article
Gene
ERBB2Erb-B2 Receptor Tyrosine Kinase 2
×
First reported
1990
Supporting publications
107
Manually curatedApproved treatment annotated
Association Review
In brief
The association between ERBB2 (Erb-B2 Receptor Tyrosine Kinase 2) and Breast Cancer is reported, with clinical genetic testing available.
Sources
1
Clinical variants
0
Symptoms
4
Compounds
28
Trials
3,464of 12,693 via ERBB2 compounds
Publications
107
01
At a glance
Association overview
A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.
02
Provenance
Evidence and sources
1 source
Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.
3 source summaries
A gene summary alongside the source descriptions it was distilled from.
04
Breast Cancer
The disorder
23 database identifiers
The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).
05
Phenotype
Clinical features
1 clinical feature
The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.
06
Mechanism overlap
Shared mechanisms
2 shared pathways
Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.
07
Interventions
Therapeutics
28 compounds & drugs
Gene-targeting drugs and associated compounds, with class, approval status, mechanism, indications and trials.
08
Human studies
Clinical trials
12,693 clinical trials
Clinical trials reached through the pair’s compounds, keeping disorder-targeting trials separate from other indications.
107 publications
Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.
10
Provenance
References & sources
20 references
Every source and publication cited across this dossier, as one numbered reference list.
