Genopathy
Gene-Disorder Association · Article
Gene
ARFGEF1
ARF Guanine Nucleotide Exchange Factor 1
Disorder
Joubert Syndrome 21
First reported 2014
Supporting publications 5
Key publication · gene–disorder Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.American journal of human genetics · 2014
Key publication · disorder Follow-up in children with Joubert syndrome.Neuropediatrics · 1997
Manually curated
Association Review

In brief

The association between ARFGEF1 (ARF Guanine Nucleotide Exchange Factor 1) and Joubert Syndrome 21 is well established and manually curated, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 203
Symptoms 55
Compounds 0
Trials 0
Publications 5
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
ARFGEF1

The gene

1 source summary

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

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04
Joubert Syndrome 21

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

33 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

203 clinical variants

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

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07
Mechanism overlap

Shared mechanisms

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

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08
Literature

Reading

5 publications

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

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09
Provenance

References & sources

10 references

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

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