Genopathy
Gene-Disorder Association · Article
Gene
BLOC1S1-RDH5
BLOC1S1-RDH5 Readthrough
Disorder
Esophagus Squamous Cell Carcinoma
First reported 1952
Supporting publications 1
Key publication · disorder An analysis of 100 cases of squamous-cell carcinoma of the esophagus. I. With special reference to the delay periods and delay factors in diagnosis and therapy, contrasting state and city and county institutions.Cancer · 1952
Association Review

In brief

The association between BLOC1S1-RDH5 (BLOC1S1-RDH5 Readthrough) and Esophagus Squamous Cell Carcinoma is reported, supported by a single source.

Sources 1
Clinical variants 0
Symptoms 8
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
BLOC1S1-RDH5

The gene

1 source summary

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

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04
Esophagus Squamous Cell Carcinoma

The disorder

12 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

8 clinical features

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

6 references

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

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