Genopathy
Gene-Disorder Association · Article
Gene
MSH6
MutS Homolog 6
Disorder
Mismatch Repair Cancer Syndrome 1
First reported 2005
Supporting publications 6
Key publication · gene–disorder A homozygous mutation in MSH6 causes Turcot syndrome.Clinical cancer research : an official journal of the American Association for Cancer Research · 2005
Key publication · disorder Childhood cancer (tumors, leukemia, and Hodgkin's disease; a review).The Journal of pediatrics · 1953
Manually curated
Association Review

In brief

The association between MSH6 (MutS Homolog 6) and Mismatch Repair Cancer Syndrome 1 is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 47
Symptoms 35
Compounds 0
Trials 0
Publications 6
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
MSH6

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

Request access
04
Mismatch Repair Cancer Syndrome 1

The disorder

9 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
Phenotype

Clinical features

22 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

47 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
Literature

Reading

6 publications

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

Request access
09
Provenance

References & sources

13 references

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

Request access