Genopathy
Gene-Disorder Association · Article
Gene
ADGRG2
Adhesion G Protein-Coupled Receptor G2
Disorder
Vas Deferens, Congenital Bilateral Aplasia Of
First reported 2016
Supporting publications 1
Key publication · gene–disorder Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens.American journal of human genetics · 2016
Key publication · disorder [Absence of vas deferens; considerations on four cases].Revista argentina de urologia · 1951
Manually curated
Association Review

In brief

The association between ADGRG2 (Adhesion G Protein-Coupled Receptor G2) and Vas Deferens, Congenital Bilateral Aplasia Of is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording pathogenic variants and a causative germline mutation.

Sources 2
Clinical variants 13
Symptoms 9
Compounds 0
Trials 0
Publications 1
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
ADGRG2

The gene

1 source summary

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

Request access
04
Vas Deferens, Congenital Bilateral Aplasia Of

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

8 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

13 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

1 publication

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

Request access
09
Provenance

References & sources

7 references

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

Request access