Genopathy
Gene-Disorder Association · Article
Gene
ZFHX3
Zinc Finger Homeobox 3
Disorder
Spinocerebellar Ataxia 4
First reported 1996
Supporting publications 6
Key publication · gene–disorder Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1.American journal of human genetics · 1996
Key publication · disorder HLA--determination in families with hereditary ataxia.Tissue antigens · 1978
Manually curated
Association Review

In brief

The association between ZFHX3 (Zinc Finger Homeobox 3) and Spinocerebellar Ataxia 4 is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic variants.

Sources 2
Clinical variants 0
Symptoms 53
Compounds 0
Trials 0
Publications 6
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

2 sources

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

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03
ZFHX3

The gene

1 source summary

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

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04
Spinocerebellar Ataxia 4

The disorder

11 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

20 clinical features

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

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06
Mechanism overlap

Shared mechanisms

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

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07
Literature

Reading

6 publications

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

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08
Provenance

References & sources

12 references

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

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