Genopathy
Gene-Disorder Association · Article
Gene
SLC5A1
Solute Carrier Family 5 Member 1
Disorder
Glucose/Galactose Malabsorption
First reported 1991
Supporting publications 13
Key publication · gene–disorder Glucose/galactose malabsorption caused by a defect in the Na+/glucose cotransporter.Nature · 1991
Key publication · disorder Chronic diarrhoea caused by monosaccharide malabsorption.Acta paediatrica · 1962
Manually curated
Association Review

In brief

The association between SLC5A1 (Solute Carrier Family 5 Member 1) and Glucose/Galactose Malabsorption is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 463
Symptoms 28
Compounds 0
Trials 0
Publications 13
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

5 sources

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

Request access
03
SLC5A1

The gene

1 source summary

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

Request access
04
Glucose/Galactose Malabsorption

The disorder

13 database identifiers

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

Request access
05
Phenotype

Clinical features

21 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

463 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

13 publications

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

Request access
09
Provenance

References & sources

16 references

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

Request access