Genopathy
Gene-Disorder Association · Article
Gene
FTO
FTO Alpha-Ketoglutarate Dependent Dioxygenase
Disorder
Body Mass Index Quantitative Trait Locus 14
First reported 1951
Key publication · disorder [Diet and therapy of obesity; causes and therapy of obesity].Vie medicale (Paris, France : 1920) · 1951
Manually curated
Association Review

In brief

The association between FTO (FTO Alpha-Ketoglutarate Dependent Dioxygenase) and Body Mass Index Quantitative Trait Locus 14 is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and a susceptibility locus.

Sources 3
Clinical variants 1
Symptoms 5
Compounds 0
Trials 0
Publications 0
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
FTO

The gene

1 source summary

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

Request access
04
Body Mass Index Quantitative Trait Locus 14

The disorder

3 database identifiers

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

Request access
05
Phenotype

Clinical features

1 clinical feature

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

1 clinical variant

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
Provenance

References & sources

7 references

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

Request access