Genopathy
Gene-Disorder Association · Article
Gene
DVL1
Dishevelled Segment Polarity Protein 1
Disorder
Robinow Syndrome, Autosomal Dominant 2
First reported 2015
Supporting publications 7
Key publication · gene–disorder DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.American journal of human genetics · 2015
Key publication · disorder [Composition and excitability of afferent fibers of the pelvic nerve in cats].Fiziologicheskii zhurnal SSSR imeni I. M. Sechenova · 1978
Manually curated
Association Review

In brief

The association between DVL1 (Dishevelled Segment Polarity Protein 1) and Robinow Syndrome, Autosomal Dominant 2 is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and likely-pathogenic variants.

Sources 3
Clinical variants 44
Symptoms 92
Compounds 0
Trials 0
Publications 7
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

3 sources

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

Request access
03
DVL1

The gene

1 source summary

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

Request access
04
Robinow Syndrome, Autosomal Dominant 2

The disorder

10 database identifiers

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

Request access
05
Phenotype

Clinical features

70 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

44 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

7 publications

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

Request access
09
Provenance

References & sources

12 references

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

Request access