Genopathy
Gene-Disorder Association · Article
Gene
C10orf105
Chromosome 10 Open Reading Frame 105
Association Review

In brief

The association between C10orf105 (Chromosome 10 Open Reading Frame 105) and Deafness, Autosomal Recessive 12 is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 65
Symptoms 5
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.

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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
C10orf105

The gene

1 source summary

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

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04
Deafness, Autosomal Recessive 12

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

3 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

65 clinical variants

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

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07
Literature

Reading

2 publications

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

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08
Provenance

References & sources

6 references

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

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