Genopathy
Gene-Disorder Association · Article
Gene
RHBDF2
Rhomboid 5 Homolog 2
Disorder
Tylosis With Esophageal Cancer
First reported 2012
Supporting publications 4
Key publication · gene–disorder RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome.American journal of human genetics · 2012
Key publication · disorder Six cases of carcinoma of the oesophagus occurring in one family.British medical journal · 1954
Manually curated
Association Review

In brief

The association between RHBDF2 (Rhomboid 5 Homolog 2) and Tylosis With Esophageal Cancer is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 259
Symptoms 26
Compounds 0
Trials 0
Publications 4
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

5 sources

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

Request access
03
RHBDF2

The gene

1 source summary

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

Request access
04
Tylosis With Esophageal Cancer

The disorder

12 database identifiers

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

Request access
05
Phenotype

Clinical features

20 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

259 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

4 publications

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

Request access
09
Provenance

References & sources

12 references

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

Request access