Genopathy
Gene-Disorder Association · Article
Gene
NEDD4L
NEDD4 Like E3 Ubiquitin Protein Ligase
Disorder
Chromosome 5q14.3 Deletion Syndrome, Distal
First reported 1991
Key publication · disorder Fine mapping of probes in the adenomatous polyposis coli region of chromosome 5 by in situ hybridization.Genes, chromosomes & cancer · 1991
Association Review

In brief

The association between NEDD4L (NEDD4 Like E3 Ubiquitin Protein Ligase) and Chromosome 5q14.3 Deletion Syndrome, Distal is supported by expert-curated evidence, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 1
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
NEDD4L

The gene

1 source summary

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

Request access
04
Chromosome 5q14.3 Deletion Syndrome, Distal

The disorder

5 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

1 clinical variant

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

Request access
06
Provenance

References & sources

2 references

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

Request access