Genopathy
Gene-Disorder Association · Article
Gene
WNT5A
Wnt Family Member 5A
Disorder
Autosomal Recessive Robinow Syndrome
First reported 1969
Supporting publications 3
Key publication · disorder A newly recognized dwarfing syndrome.American journal of diseases of children (1960) · 1969
Manually curated
Association Review

In brief

The association between WNT5A (Wnt Family Member 5A) and Autosomal Recessive Robinow Syndrome is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 83
Symptoms 81
Compounds 0
Trials 0
Publications 3
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
WNT5A

The gene

1 source summary

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

Request access
04
Autosomal Recessive Robinow Syndrome

The disorder

7 database identifiers

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

Request access
05
Phenotype

Clinical features

79 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

83 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

3 publications

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

Request access
09
Provenance

References & sources

9 references

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

Request access