Genopathy
Gene-Disorder Association · Article
Gene
LOC129935182
ATAC-STARR-Seq Lymphoblastoid Active Region 16807
Disorder
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
First reported 1975
Key publication · disorder Atypical myopathy with myofibrillar aggregates.Archives of neurology · 1975
Association Review

In brief

The association between LOC129935182 (ATAC-STARR-Seq Lymphoblastoid Active Region 16807) and Myopathy, Myofibrillar, 9, With Early Respiratory Failure is supported by expert-curated evidence, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 5
Symptoms 54
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.

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
LOC129935182

The gene

1 source summary

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

Request access
04
Myopathy, Myofibrillar, 9, With Early Respiratory Failure

The disorder

11 database identifiers

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

Request access
05
Phenotype

Clinical features

34 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

5 clinical variants

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

Request access
07
Provenance

References & sources

6 references

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

Request access