Genopathy
Gene-Disorder Association · Article
Gene
DPYD-AS1
DPYD Antisense RNA 1
Disorder
Dihydropyrimidine Dehydrogenase Deficiency
First reported 1997
Supporting publications 7
Key publication · gene–disorder Dihydropyrimidine dehydrogenase (DPD) deficiency: identification and expression of missense mutations C29R, R886H and R235W.Human genetics · 1997
Key publication · disorder Urinary excretion of thymine and uracil in a two-year-old child with a malignant tumor of the brain.Clinical chemistry · 1979
Manually curated
Association Review

In brief

The association between DPYD-AS1 (DPYD Antisense RNA 1) and Dihydropyrimidine Dehydrogenase Deficiency is well established and manually curated, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 55
Symptoms 83
Compounds 0
Trials 0
Publications 7
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
DPYD-AS1

The gene

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

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04
Dihydropyrimidine Dehydrogenase Deficiency

The disorder

13 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

70 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

55 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

7 publications

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

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08
Provenance

References & sources

13 references

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

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