Genopathy
Gene-Disorder Association · Article
Gene
MT-TH
Mitochondrially Encoded TRNA-His (CAU/C)
Disorder
Mitochondrial Disease
First reported 2004
Supporting publications 8
Key publication · gene–disorder Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene.Neurology · 2004
Key publication · disorder Male sterility due to centriolar-mitochondrial disease of the spermatozoa.The Journal of urology · 1950
Manually curated
Association Review

In brief

The association between MT-TH (Mitochondrially Encoded TRNA-His (CAU/C)) and Mitochondrial Disease is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic and likely-pathogenic variants.

Sources 2
Clinical variants 15
Symptoms 0
Compounds 0
Trials 0
Publications 8
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

2 sources

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

Request access
03
MT-TH

The gene

1 source summary

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

Request access
04
Mitochondrial Disease

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

15 clinical variants

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

Request access
06
Literature

Reading

8 publications

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

Request access
07
Provenance

References & sources

11 references

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

Request access