Genopathy
Gene-Disorder Association · Article
Gene
MTMR10
Myotubularin Related Protein 10
First reported 1972
Supporting publications 10
Manually curated
Association Review

In brief

The association between MTMR10 (Myotubularin Related Protein 10) and Interstitial Nephritis, Karyomegalic 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 82
Symptoms 26
Compounds 0
Trials 0
Publications 10
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
MTMR10

The gene

1 source summary

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

Request access
04
Interstitial Nephritis, Karyomegalic

The disorder

10 database identifiers

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

Request access
05
Phenotype

Clinical features

11 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

82 clinical variants

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

Request access
07
Literature

Reading

10 publications

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

Request access
08
Provenance

References & sources

14 references

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

Request access