Genopathy
Gene-Disorder Association · Article
Gene
TBC1D32
TBC1 Domain Family Member 32
Disorder
Retinitis Pigmentosa 100
First reported 1993
Key publication · disorder Functional identification of al-3 from Neurospora crassa as the gene for geranylgeranyl pyrophosphate synthase by complementation with crt genes, in vitro characterization of the gene product and mutant analysis.Journal of photochemistry and photobiology. B, Biology · 1993
Manually curated
Association Review

In brief

The association between TBC1D32 (TBC1 Domain Family Member 32) and Retinitis Pigmentosa 100 is a manually-curated gene–disease association, drawing on a single expert-curated source, which records a known molecular basis.

Sources 1
Clinical variants 0
Symptoms 24
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
TBC1D32

The gene

1 source summary

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

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04
Retinitis Pigmentosa 100

The disorder

6 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

17 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

3 references

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

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