Genopathy
Gene-Disorder Association · Article
Gene
RNH1
Ribonuclease/Angiogenin Inhibitor 1
Disorder
Encephalitis, Acute, Infection-Induced 12
First reported 2023
Supporting publications 2
Key publication · gene–disorder Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.Genetics in medicine : official journal of the American College of Medical Genetics · 2023
Key publication · disorder Virus persistence and recurring demyelination produced by a temperature-sensitive mutant of MHV-4.Nature · 1982
Manually curated
Association Review

In brief

The association between RNH1 (Ribonuclease/Angiogenin Inhibitor 1) and Encephalitis, Acute, Infection-Induced 12 is well established and manually curated, with its 3 contributing sources — 3 of them expert-curated — recording a known molecular basis, causative variation, and a susceptibility locus.

Sources 3
Clinical variants 7
Symptoms 42
Compounds 0
Trials 0
Publications 2
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
RNH1

The gene

1 source summary

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

Request access
04
Encephalitis, Acute, Infection-Induced 12

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

15 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

7 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

2 publications

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

Request access
09
Provenance

References & sources

7 references

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

Request access