Genopathy
Gene-Disorder Association · Article
Gene
SOX10
SRY-Box Transcription Factor 10
Disorder
Hirschsprung Disease 1
First reported 1999
Supporting publications 20
Key publication · gene–disorder Early death of neural crest cells is responsible for total enteric aganglionosis in Sox10(Dom)/Sox10(Dom) mouse embryos.Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society · 1999
Key publication · disorder Congenital megacolon of a man 54 years of age: report of case.Proceedings of the staff meetings. Mayo Clinic · 1950
Manually curated
Association Review

In brief

The association between SOX10 (SRY-Box Transcription Factor 10) and Hirschsprung Disease 1 is well established and manually curated, with its 3 contributing sources — 1 of them expert-curated — recording likely-pathogenic variants.

Sources 3
Clinical variants 3
Symptoms 25
Compounds 0
Trials 0
Publications 20
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

3 sources

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

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03
SOX10

The gene

1 source summary

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

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04
Hirschsprung Disease 1

The disorder

18 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

21 clinical features

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

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06
ClinVar and variant evidence

Genetic basis

3 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
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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08
Mechanism overlap

Shared mechanisms

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

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09
Literature

Reading

20 publications

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

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10
Provenance

References & sources

18 references

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

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