Genopathy
Gene-Disorder Association · Article
Gene
ODAD3
Outer Dynein Arm Docking Complex Subunit 3
Disorder
Ciliary Dyskinesia, Primary, 30
First reported 2014
Supporting publications 6
Key publication · gene–disorder CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.American journal of human genetics · 2014
Key publication · disorder Statistical features of human exons and their flanking regions.Human molecular genetics · 1998
Manually curated
Association Review

In brief

The association between ODAD3 (Outer Dynein Arm Docking Complex Subunit 3) and Ciliary Dyskinesia, Primary, 30 is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic variants.

Sources 3
Clinical variants 304
Symptoms 27
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

3 sources

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

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03
ODAD3

The gene

1 source summary

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

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04
Ciliary Dyskinesia, Primary, 30

The disorder

9 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

17 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

304 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

6 publications

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

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09
Provenance

References & sources

12 references

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

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