Genopathy
Gene-Disorder Association · Article
Gene
CCDST
Cervical Cancer Associated DHX9 Suppressive Transcript
Disorder
Dermatitis, Atopic, 2
First reported 2007
Supporting publications 10
Key publication · gene–disorder Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema.Nature genetics · 2007
Key publication · disorder Infantile and atopic eczema from injury to the skin by overcare and over treatment.A.M.A. American journal of diseases of children · 1950
Manually curated
Association Review

In brief

The association between CCDST (Cervical Cancer Associated DHX9 Suppressive Transcript) and Dermatitis, Atopic, 2 is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 52
Symptoms 5
Compounds 0
Trials 0
Publications 10
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

1 source

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

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03
CCDST

The gene

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

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04
Dermatitis, Atopic, 2

The disorder

8 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

2 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

52 clinical variants

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

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07
Population genetics

GWAS signals

1 GWAS phenotype

Gene-associated GWAS phenotypes matching the disorder, with best SNP, score, risk-allele frequency and effect size.

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08
Literature

Reading

10 publications

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

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09
Provenance

References & sources

13 references

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

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