Genopathy
Gene-Disorder Association · Article
Gene
CFAP52
Cilia And Flagella Associated Protein 52
Disorder
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
First reported 2015
Supporting publications 2
Key publication · disorder A human laterality disorder associated with a homozygous WDR16 deletion.European journal of human genetics : EJHG · 2015
Manually curated
Association Review

In brief

The association between CFAP52 (Cilia And Flagella Associated Protein 52) and Heterotaxy, Visceral, 10, Autosomal, With Male Infertility is well established and manually curated, with its 3 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and causative variation.

Sources 3
Clinical variants 4
Symptoms 12
Compounds 0
Trials 0
Publications 2
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
CFAP52

The gene

1 source summary

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

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04
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility

The disorder

6 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

8 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

4 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

2 publications

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

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09
Provenance

References & sources

7 references

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

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