Genopathy
Gene-Disorder Association · Article
Gene
USP9Y
Ubiquitin Specific Peptidase 9 Y-Linked
Disorder
Chromosome Y Microdeletion Syndrome
First reported 1999
Supporting publications 3
Key publication · disorder An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y.Nature genetics · 1999
Manually curated
Association Review

In brief

The association between USP9Y (Ubiquitin Specific Peptidase 9 Y-Linked) and Chromosome Y Microdeletion Syndrome is a manually-curated gene–disease association, supported by a single expert-curated source.

Sources 1
Clinical variants 0
Symptoms 6
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

1 source

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

Request access
03
USP9Y

The gene

1 source summary

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

Request access
04
Chromosome Y Microdeletion Syndrome

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

6 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
07
Literature

Reading

3 publications

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

Request access
08
Provenance

References & sources

7 references

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

Request access