Genopathy
Gene-Disorder Association · Article
Gene
RHOH
Ras Homolog Family Member H
Disorder
T-Cell Immunodeficiency With Epidermodysplasia Verruciformis
First reported 2012
Supporting publications 1
Key publication · disorder Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections.The Journal of clinical investigation · 2012
Manually curated
Association Review

In brief

The association between RHOH (Ras Homolog Family Member H) and T-Cell Immunodeficiency With Epidermodysplasia Verruciformis is well established and manually curated, drawing on a single expert-curated source, which records a causative germline mutation.

Sources 1
Clinical variants 76
Symptoms 0
Compounds 0
Trials 0
Publications 1
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
RHOH

The gene

1 source summary

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

Request access
04
T-Cell Immunodeficiency With Epidermodysplasia Verruciformis

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

76 clinical variants

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

Request access
06
Literature

Reading

1 publication

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

Request access
07
Provenance

References & sources

5 references

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

Request access