Genopathy
Gene-Disorder Association · Article
Gene
CEBPA
CCAAT Enhancer Binding Protein Alpha
Disorder
Retinoblastoma
First reported 1997
Supporting publications 1
Key publication · gene–disorder Peroxisome proliferator activated receptor gamma, CCAAT/enhancer-binding protein alpha, and cell cycle status regulate the commitment to adipocyte differentiation.The Journal of biological chemistry · 1997
Key publication · disorder Retinoblastoma; analysis of 17 autopsies.Archives of ophthalmology (Chicago, Ill. : 1929) · 1950
Manually curated
Association Review

In brief

The association between CEBPA (CCAAT Enhancer Binding Protein Alpha) and Retinoblastoma is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 39
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
CEBPA

The gene

2 source summaries

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

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04
Retinoblastoma

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

29 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

8 references

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

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