Genopathy
Gene-Disorder Association · Article
Gene
HUWE1
HECT, UBA And WWE Domain Containing E3 Ubiquitin Protein Ligase 1
Disorder
Syndromic X-Linked Intellectual Disability Turner Type
First reported 1980
Supporting publications 14
Key publication · disorder A new form of X-linked mental retardation with growth retardation, deafness, and microgenitalism.American journal of human genetics · 1980
Manually curated
Association Review

In brief

The association between HUWE1 (HECT, UBA And WWE Domain Containing E3 Ubiquitin Protein Ligase 1) and Syndromic X-Linked Intellectual Disability Turner Type is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic and likely-pathogenic variants.

Sources 2
Clinical variants 183
Symptoms 0
Compounds 0
Trials 0
Publications 14
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
HUWE1

The gene

1 source summary

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

Request access
04
Syndromic X-Linked Intellectual Disability Turner Type

The disorder

4 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

183 clinical variants

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

Request access
06
Literature

Reading

14 publications

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

Request access
07
Provenance

References & sources

11 references

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

Request access