Genopathy
Gene-Disorder Association · Article
Gene
MLH1
MutL Homolog 1
Disorder
Lynch Syndrome
First reported 1990
Supporting publications 655
Key publication · gene–disorder Genetic diagnosis of Lynch syndrome II in an extended colorectal cancer-prone family.Cancer · 1990
Key publication · disorder The cancer-family syndrome and heritable solitary colonic polyps.Diseases of the colon and rectum · 1970
Manually curated
Association Review

In brief

The association between MLH1 (MutL Homolog 1) and Lynch Syndrome 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 3,747
Symptoms 64
Compounds 0
Trials 0
Publications 655
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

3 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
MLH1

The gene

2 source summaries

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

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04
Lynch Syndrome

The disorder

17 database identifiers

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

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05
Phenotype

Clinical features

60 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
ClinVar and variant evidence

Genetic basis

3,747 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Mechanism overlap

Shared mechanisms

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

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08
Literature

Reading

655 publications

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

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09
Provenance

References & sources

15 references

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

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