Genopathy
Gene-Disorder Association · Article
Gene
SLC35A3
Solute Carrier Family 35 Member A3
Disorder
Arthrogryposis, Impaired Intellectual Development, And Seizures
First reported 2017
Supporting publications 9
Key publication · gene–disorder A human case of SLC35A3-related skeletal dysplasia.American journal of medical genetics. Part A · 2017
Key publication · disorder An automated medical record system, 10 years later.Journal of medical systems · 1984
Manually curated
Association Review

In brief

The association between SLC35A3 (Solute Carrier Family 35 Member A3) and Arthrogryposis, Impaired Intellectual Development, And Seizures is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 256
Symptoms 41
Compounds 0
Trials 0
Publications 9
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

5 sources

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

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03
SLC35A3

The gene

1 source summary

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

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04
Arthrogryposis, Impaired Intellectual Development, And Seizures

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

19 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

256 clinical variants

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

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07
Mechanism overlap

Shared mechanisms

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

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08
Literature

Reading

9 publications

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

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09
Provenance

References & sources

16 references

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

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