Genopathy
Gene-Disorder Association · Article
Gene
PLOD1
Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 1
Disorder
Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome
First reported 2005
Supporting publications 38
Key publication · gene–disorder Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA).Molecular genetics and metabolism · 2005
Key publication · disorder A heritable disorder of connective tissue. Hydroxylysine-deficient collagen disease.The New England journal of medicine · 1972
Manually curated
Association Review

In brief

The association between PLOD1 (Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 1) and Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 974
Symptoms 0
Compounds 0
Trials 0
Publications 38
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
PLOD1

The gene

1 source summary

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

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04
Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome

The disorder

1 database identifier

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

974 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

38 publications

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

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07
Provenance

References & sources

10 references

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

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