Genopathy
Gene-Disorder Association · Article
Gene
RLIG1
RNA 5'-Phosphate And 3'-OH Ligase 1
Disorder
Joubert Syndrome 5
First reported 2006
Supporting publications 1
Key publication · gene–disorder The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.Nature genetics · 2006
Key publication · disorder Proteomic characterization of the human centrosome by protein correlation profiling.Nature · 2003
Manually curated
Association Review

In brief

The association between RLIG1 (RNA 5'-Phosphate And 3'-OH Ligase 1) and Joubert Syndrome 5 is well established and manually curated, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 32
Symptoms 39
Compounds 0
Trials 0
Publications 1
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
RLIG1

The gene

1 source summary

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

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04
Joubert Syndrome 5

The disorder

10 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

27 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

32 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

1 publication

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

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08
Provenance

References & sources

5 references

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

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