Gene-Disorder Association · Article
Gene
SLC2A2 Solute Carrier Family 2 Member 2
×
First reported
1950
Supporting publications
14
Manually curated Approved treatment annotated
Association Review
In brief The association between SLC2A2 (Solute Carrier Family 2 Member 2) and Type 2 Diabetes Mellitus is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and a susceptibility locus.
Sources
3
Clinical variants
72
Symptoms
9
Compounds
2
Trials
1,015 of 2,384 via SLC2A2 compounds
Publications
14
Contents
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 1 source summary
A gene summary alongside the source descriptions it was distilled from.
Request access 04
Type 2 Diabetes Mellitus
The disorder 12 database identifiers
The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).
Request access 05
Phenotype
Clinical features 3 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 72 clinical variants
ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.
Request access 07
Population genetics
GWAS signals 1 GWAS phenotype
Gene-associated GWAS phenotypes matching the disorder, with best SNP, score, risk-allele frequency and effect size.
Request access 08
Mechanism overlap
Shared mechanisms Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.
Request access 09
Interventions
Therapeutics 2 compounds & drugs
Gene-targeting drugs and associated compounds, with class, approval status, mechanism, indications and trials.
Request access 10
Human studies
Clinical trials 2,384 clinical trials
Clinical trials reached through the pair’s compounds, keeping disorder-targeting trials separate from other indications.
Request access 14 publications
Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.
Request access 12
Provenance
References & sources 17 references
Every source and publication cited across this dossier, as one numbered reference list.
Request access 
