Genopathy
Gene-Disorder Association · Article
Gene
CHD7
Chromodomain Helicase DNA Binding Protein 7
Disorder
Scoliosis, Isolated 3
First reported 1975
Key publication · disorder Electron microscope heteroduplex studies of sequence relations among bacterial plasmids: identification and mapping of the insertion sequences IS1 and IS2 in F and R plasmids.Journal of bacteriology · 1975
Manually curated
Association Review

In brief

The association between CHD7 (Chromodomain Helicase DNA Binding Protein 7) and Scoliosis, Isolated 3 is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic variants and a susceptibility locus.

Sources 3
Clinical variants 2
Symptoms 0
Compounds 0
Trials 0
Publications 0
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
CHD7

The gene

1 source summary

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

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04
Scoliosis, Isolated 3

The disorder

5 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

2 clinical variants

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

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06
Provenance

References & sources

4 references

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

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