Genopathy
Gene-Disorder Association · Article
Gene
SLC2A10
Solute Carrier Family 2 Member 10
Disorder
Familial Thoracic Aortic Aneurysm And Aortic Dissection
First reported 2018
Supporting publications 14
Key publication · gene–disorder Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta.Genetics in medicine : official journal of the American College of Medical Genetics · 2018
Key publication · disorder [2 clinically diagnosed cases of idiopathic median necrosis of the aorta (Gsell-Erdheim disease)].Zeitschrift fur Kreislaufforschung · 1961
Manually curated
Association Review

In brief

The association between SLC2A10 (Solute Carrier Family 2 Member 10) and Familial Thoracic Aortic Aneurysm And Aortic Dissection is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 288
Symptoms 44
Compounds 0
Trials 0
Publications 14
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

2 sources

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

Request access
03
SLC2A10

The gene

1 source summary

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

Request access
04
Familial Thoracic Aortic Aneurysm And Aortic Dissection

The disorder

5 database identifiers

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

Request access
05
Phenotype

Clinical features

41 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

288 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

14 publications

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

Request access
09
Provenance

References & sources

14 references

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

Request access