Genopathy
Gene-Disorder Association · Article
Gene
USP9X
Ubiquitin Specific Peptidase 9 X-Linked
Disorder
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
First reported 2016
Supporting publications 6
Key publication · gene–disorder De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.American journal of human genetics · 2016
Key publication · disorder The zinc finger of the CSN-associated deubiquitinating enzyme USP15 is essential to rescue the E3 ligase Rbx1.Current biology : CB · 2005
Manually curated
Association Review

In brief

The association between USP9X (Ubiquitin Specific Peptidase 9 X-Linked) and Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted is well established and manually curated, with its 3 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and causative variation.

Sources 3
Clinical variants 71
Symptoms 83
Compounds 0
Trials 0
Publications 6
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
USP9X

The gene

1 source summary

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

Request access
04
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted

The disorder

6 database identifiers

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

Request access
05
Phenotype

Clinical features

57 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

71 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

6 publications

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

Request access
09
Provenance

References & sources

11 references

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

Request access