Genopathy
Gene-Disorder Association · Article
Gene
ALPK1
Alpha Kinase 1
Disorder
Alpk1-Related Autoinflammatory Disease
First reported 2019
Supporting publications 4
Key publication · gene–disorder ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.Genetics in medicine : official journal of the American College of Medical Genetics · 2019
Key publication · disorder Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.Genetics in medicine : official journal of the American College of Medical Genetics · 2015
Manually curated
Association Review

In brief

The association between ALPK1 (Alpha Kinase 1) and Alpk1-Related Autoinflammatory Disease is well established and manually curated, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 14
Symptoms 0
Compounds 0
Trials 0
Publications 4
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
ALPK1

The gene

1 source summary

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

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04
Alpk1-Related Autoinflammatory Disease

The disorder

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

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05
ClinVar and variant evidence

Genetic basis

14 clinical variants

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

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06
Literature

Reading

4 publications

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

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07
Provenance

References & sources

6 references

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

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