Genopathy
Gene-Disorder Association · Article
Gene
CIB2
Calcium And Integrin Binding Family Member 2
Disorder
Usher Syndrome, Type Iic
First reported 1993
Key publication · disorder Genetic heterogeneity of Usher syndrome type II.Journal of medical genetics · 1993
Manually curated
Association Review

In brief

The association between CIB2 (Calcium And Integrin Binding Family Member 2) and Usher Syndrome, Type Iic is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 4
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

1 source

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

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03
CIB2

The gene

1 source summary

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

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04
Usher Syndrome, Type Iic

The disorder

11 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
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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07
Provenance

References & sources

4 references

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

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