Genopathy
Gene-Disorder Association · Article
Gene
MSH2
MutS Homolog 2
Disorder
Colorectal Cancer
First reported 1994
Supporting publications 133
Key publication · gene–disorder Replication errors in benign and malignant tumors from hereditary nonpolyposis colorectal cancer patients.Cancer research · 1994
Key publication · disorder A review of colon cancer; presentation of 14 cases concerning cancer of the colon.Virginia medical monthly · 1950
Manually curated
Association Review

In brief

The association between MSH2 (MutS Homolog 2) and Colorectal Cancer is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic variants and causative variation.

Sources 3
Clinical variants 107
Symptoms 15
Compounds 0
Trials 0
Publications 133
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
03
MSH2

The gene

1 source summary

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

107 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

1 shared pathway

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
08
Literature

Reading

133 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

Request access
09
Provenance

References & sources

19 references

Every source and publication cited across this dossier, as one numbered reference list.

Request access