Gene-Disorder Association · Article
First reported
1997
Supporting publications
283
Manually curated Approved treatment annotated
Association Review
In brief The association between CTNNB1 (Catenin Beta 1) and Colorectal Cancer 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
15
Symptoms
15
Compounds
1
Trials
458 of 1,047 via CTNNB1 compounds
Publications
283
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 4 sources
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
Colorectal Cancer
The disorder 23 database identifiers
The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).
Request access 05
Phenotype
Clinical features 6 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 15 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 5 shared pathways
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 1,047 clinical trials
Clinical trials reached through the pair’s compounds, keeping disorder-targeting trials separate from other indications.
Request access 283 publications
Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.
Request access 11
Provenance
References & sources 22 references
Every source and publication cited across this dossier, as one numbered reference list.
Request access 
