Genopathy
Gene-Disorder Association · Article
Gene
CCDC88C
Coiled-Coil And HOOK Domain Protein 88C
Disorder
Hydrocephalus
First reported 2010
Supporting publications 3
Key publication · gene–disorder Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum.Molecular syndromology · 2010
Key publication · disorder A study of the changes in the brain in experimental internal hydrocephalus.The Journal of pathology and bacteriology · 1950
Manually curated
Association Review

In brief

The association between CCDC88C (Coiled-Coil And HOOK Domain Protein 88C) and Hydrocephalus is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording likely-pathogenic variants.

Sources 2
Clinical variants 96
Symptoms 10
Compounds 0
Trials 0
Publications 3
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
CCDC88C

The gene

1 source summary

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

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04
Hydrocephalus

The disorder

10 database identifiers

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

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05
ClinVar and variant evidence

Genetic basis

96 clinical variants

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

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06
Literature

Reading

3 publications

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

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07
Provenance

References & sources

7 references

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

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