Genopathy
Gene-Disorder Association · Article
Gene
SLC37A4
Solute Carrier Family 37 Member 4
Disorder
Congenital Disorder Of Glycosylation, Type Iiw
First reported 1986
Supporting publications 8
Key publication · disorder The muscular dystrophies.American family physician · 1986
Manually curated
Association Review

In brief

The association between SLC37A4 (Solute Carrier Family 37 Member 4) and Congenital Disorder Of Glycosylation, Type Iiw is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic and likely-pathogenic variants.

Sources 3
Clinical variants 73
Symptoms 69
Compounds 0
Trials 0
Publications 8
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

3 sources

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

Request access
03
SLC37A4

The gene

1 source summary

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

Request access
04
Congenital Disorder Of Glycosylation, Type Iiw

The disorder

7 database identifiers

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

Request access
05
Phenotype

Clinical features

60 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

73 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

8 publications

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

Request access
09
Provenance

References & sources

13 references

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

Request access