Genopathy
Gene-Disorder Association · Article
Gene
RNU6-1
RNA, U6 Small Nuclear 1
Disorder
Retinitis Pigmentosa 103
First reported 2012
Key publication · disorder A randomized controlled crossover trial with delayed-release cysteamine bitartrate in nephropathic cystinosis: effectiveness on white blood cell cystine levels and comparison of safety.Clinical journal of the American Society of Nephrology : CJASN · 2012
Manually curated
Association Review

In brief

The association between RNU6-1 (RNA, U6 Small Nuclear 1) and Retinitis Pigmentosa 103 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 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

1 source

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

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03
RNU6-1

The gene

1 source summary

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

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04
Retinitis Pigmentosa 103

The disorder

2 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Provenance

References & sources

2 references

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

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