Genopathy
Gene-Disorder Association · Article
Gene
SOX9
SRY-Box Transcription Factor 9
Disorder
Pierre Robin Syndrome
First reported 2007
Supporting publications 4
Key publication · gene–disorder Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2.Journal of medical genetics · 2007
Key publication · disorder [Syndrome of micrognathia, cleft palate and glossoptosis (Pierre Robin syndrome); clinical and anatomopathological study of two cases].La Pediatria · 1955
Manually curated
Association Review

In brief

The association between SOX9 (SRY-Box Transcription Factor 9) and Pierre Robin Syndrome is a manually-curated gene–disease association, drawing on a single expert-curated source, which records a causative germline mutation.

Sources 1
Clinical variants 0
Symptoms 23
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.

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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
SOX9

The gene

1 source summary

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

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04
Pierre Robin Syndrome

The disorder

8 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

22 clinical features

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

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06
Genomic context

Regulatory context

1 regulatory element

GeneHancer regulatory elements for the pair, with coordinates, score, element type and supporting literature.

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07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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08
Literature

Reading

4 publications

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

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09
Provenance

References & sources

11 references

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

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