Genopathy
Gene-Disorder Association · Article
Gene
ZNF335
Zinc Finger Protein 335
Disorder
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
First reported 2012
Supporting publications 4
Key publication · disorder Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation.Cell · 2012
Manually curated
Association Review

In brief

The association between ZNF335 (Zinc Finger Protein 335) and Microcephalic Primordial Dwarfism Due To Znf335 Deficiency is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic and likely-pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 72
Symptoms 11
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

3 sources

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

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03
ZNF335

The gene

1 source summary

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

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04
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency

The disorder

5 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

9 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

72 clinical variants

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

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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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