Genopathy
Gene-Disorder Association · Article
Gene
ST3GAL3
ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 3
Disorder
Developmental And Epileptic Encephalopathy 15
First reported 1987
Supporting publications 3
Key publication · disorder Ontogeny of seizure incidence, latency, and severity in genetically epilepsy prone rats.Developmental psychobiology · 1987
Manually curated
Association Review

In brief

The association between ST3GAL3 (ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 3) and Developmental And Epileptic Encephalopathy 15 is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 4
Clinical variants 23
Symptoms 23
Compounds 0
Trials 0
Publications 3
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

4 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

Request access
03
ST3GAL3

The gene

1 source summary

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

Request access
04
Developmental And Epileptic Encephalopathy 15

The disorder

10 database identifiers

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

Request access
05
Phenotype

Clinical features

15 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
ClinVar and variant evidence

Genetic basis

23 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

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

Request access
08
Literature

Reading

3 publications

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

Request access
09
Provenance

References & sources

9 references

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

Request access