Genopathy
Gene-Disorder Association · Article
Gene
ODAD1
Outer Dynein Arm Docking Complex Subunit 1
Disorder
Ciliary Dyskinesia, Primary, 20
First reported 2013
Supporting publications 2
Key publication · gene–disorder Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia.American journal of human genetics · 2013
Key publication · disorder Pitchfork regulates primary cilia disassembly and left-right asymmetry.Developmental cell · 2010
Manually curated
Association Review

In brief

The association between ODAD1 (Outer Dynein Arm Docking Complex Subunit 1) and Ciliary Dyskinesia, Primary, 20 is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and causative variation.

Sources 4
Clinical variants 37
Symptoms 35
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.

Request access
02
Provenance

Evidence and sources

4 sources

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

Request access
03
ODAD1

The gene

1 source summary

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

Request access
04
Ciliary Dyskinesia, Primary, 20

The disorder

9 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
Phenotype

Clinical features

22 clinical features

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

Request access
06
ClinVar and variant evidence

Genetic basis

37 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

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

Request access
08
Literature

Reading

2 publications

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

Request access
09
Provenance

References & sources

9 references

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

Request access