Genopathy
Gene-Disorder Association · Article
Gene
SMAD4
SMAD Family Member 4
Disorder
Esophageal Cancer
First reported 2000
Supporting publications 1
Key publication · gene–disorder A dominant negative mutation of transforming growth factor-beta receptor type II gene in microsatellite stable oesophageal carcinoma.British journal of cancer · 2000
Key publication · disorder Carcinoma of esophagus complicating cardiospasm; report of a case.Gastroenterology · 1950
Manually curated
Association Review

In brief

The association between SMAD4 (SMAD Family Member 4) and Esophageal Cancer is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 17
Compounds 0
Trials 0
Publications 1
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

1 source

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

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03
SMAD4

The gene

1 source summary

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

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04
Esophageal Cancer

The disorder

40 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

1 clinical feature

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

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06
Literature

Reading

1 publication

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

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07
Provenance

References & sources

7 references

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

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