Genopathy
Gene-Disorder Association · Article
Gene
ROBO2
Roundabout Guidance Receptor 2
Disorder
Cakut
First reported 2018
Key publication · gene–disorder Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.Journal of the American Society of Nephrology : JASN · 2018
Key publication · disorder An inheritable anomaly of red-cell oxalate transport in "primary" calcium nephrolithiasis correctable with diuretics.The New England journal of medicine · 1986
Manually curated
Association Review

In brief

The association between ROBO2 (Roundabout Guidance Receptor 2) and Cakut is reported, with clinical genetic testing available.

Sources 1
Clinical variants 18
Symptoms 0
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

1 source

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

Request access
03
ROBO2

The gene

1 source summary

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

Request access
04
Cakut

The disorder

6 database identifiers

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

Request access
05
ClinVar and variant evidence

Genetic basis

18 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

Request access
06
Mechanism overlap

Shared mechanisms

2 shared pathways

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

Request access
07
Provenance

References & sources

7 references

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

Request access