Genopathy
Gene-Disorder Association · Article
Gene
CLCN7
Cl-/H+ Antiporter 7
Disorder
Osteopetrosis
First reported 1992
Supporting publications 15
Key publication · gene–disorder Elevated serum levels of creatine kinase BB in autosomal dominant osteopetrosis type II--a family study.Clinical genetics · 1992
Key publication · disorder Hereditary osteopetrosis of the rabbit. III. Pathologic observations; skeletal abnormalities.The Journal of experimental medicine · 1950
Manually curated
Association Review

In brief

The association between CLCN7 (Cl-/H+ Antiporter 7) and Osteopetrosis is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording likely-pathogenic variants.

Sources 2
Clinical variants 188
Symptoms 0
Compounds 0
Trials 0
Publications 15
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
CLCN7

The gene

1 source summary

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

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04
Osteopetrosis

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
ClinVar and variant evidence

Genetic basis

188 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

15 publications

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

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07
Provenance

References & sources

11 references

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

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