Genopathy
Gene-Disorder Association · Article
Gene
RNASEH2C
Ribonuclease H2 Subunit C
Disorder
Aicardi-Goutiares Syndrome
First reported 2021
Key publication · disorder Severe diarrhea in a 10-year-old girl with Aicardi-Goutières syndrome due to IFIH1 gene mutation.American journal of medical genetics. Part A · 2021
Manually curated
Association Review

In brief

The association between RNASEH2C (Ribonuclease H2 Subunit C) and Aicardi-Goutiares Syndrome is a manually-curated gene–disease association, drawing on a single expert-curated source, which records a causative germline mutation.

Sources 1
Clinical variants 0
Symptoms 72
Compounds 0
Trials 0
Publications 0
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

1 source

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

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03
RNASEH2C

The gene

1 source summary

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

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04
Aicardi-Goutiares Syndrome

The disorder

6 database identifiers

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

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05
Population genetics

GWAS signals

1 GWAS phenotype

Gene-associated GWAS phenotypes matching the disorder, with best SNP, score, risk-allele frequency and effect size.

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06
Provenance

References & sources

4 references

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

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