Genopathy
Gene-Disorder Association · Article
Gene
SRD5A3-AS1
SRD5A3 Antisense RNA 1
Disorder
Congenital Disorder Of Glycosylation, Type Iq
First reported 2016
Supporting publications 4
Key publication · gene–disorder SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features.American journal of medical genetics. Part A · 2016
Key publication · disorder Statistical features of human exons and their flanking regions.Human molecular genetics · 1998
Manually curated
Association Review

In brief

The association between SRD5A3-AS1 (SRD5A3 Antisense RNA 1) and Congenital Disorder Of Glycosylation, Type Iq is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 89
Symptoms 70
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
SRD5A3-AS1

The gene

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

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04
Congenital Disorder Of Glycosylation, Type Iq

The disorder

12 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

52 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

89 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

4 publications

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

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08
Provenance

References & sources

9 references

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

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