Genopathy
Gene-Disorder Association · Article
Gene
CHEK2
Checkpoint Kinase 2
Disorder
Pancreatic Cancer
First reported 1950
Key publication · disorder Pancreatic carcinoma with unusual metastasis to the skin and subcutaneous tissue simulating cellulitis.The New England journal of medicine · 1950
Manually curated
Association Review

In brief

The association between CHEK2 (Checkpoint Kinase 2) and Pancreatic Cancer is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 4
Symptoms 35
Compounds 0
Trials 0
Publications 0
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

2 sources

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

Request access
03
CHEK2

The gene

2 source summaries

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

Request access
04
Pancreatic Cancer

The disorder

33 database identifiers

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

Request access
05
Phenotype

Clinical features

26 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

4 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
Provenance

References & sources

9 references

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

Request access