Genopathy
Gene-Disorder Association · Article
Gene
AGGF1
Angiogenic Factor With G-Patch And FHA Domains 1
Disorder
Klippel-Trenaunay-Weber Syndrome
First reported 2004
Supporting publications 5
Key publication · gene–disorder Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome.Nature · 2004
Key publication · disorder [Phacomatoses in children and the Klippel-Trénaunay syndrome].Maandschrift voor kindergeneeskunde · 1950
Manually curated
Association Review

In brief

The association between AGGF1 (Angiogenic Factor With G-Patch And FHA Domains 1) and Klippel-Trenaunay-Weber Syndrome is a manually-curated gene–disease association, drawing on a single expert-curated source, which records a susceptibility locus.

Sources 1
Clinical variants 0
Symptoms 50
Compounds 0
Trials 0
Publications 5
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

1 source

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

Request access
03
AGGF1

The gene

1 source summary

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

Request access
04
Klippel-Trenaunay-Weber Syndrome

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

43 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
07
Literature

Reading

5 publications

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

Request access
08
Provenance

References & sources

10 references

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

Request access