Genopathy
Gene-Disorder Association · Article
Gene
MYH7
Myosin Heavy Chain 7
Disorder
Myopathy
First reported 1993
Supporting publications 13
Key publication · gene–disorder Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy.Proceedings of the National Academy of Sciences of the United States of America · 1993
Key publication · disorder Effects of vitamin E deficiency and cod liver oil on myopathy in mice.Archives of pathology · 1950
Manually curated
Association Review

In brief

The association between MYH7 (Myosin Heavy Chain 7) and Myopathy is a manually-curated gene–disease association, with its 2 contributing sources — 1 of them expert-curated — recording likely-pathogenic variants.

Sources 2
Clinical variants 2
Symptoms 13
Compounds 0
Trials 0
Publications 13
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
MYH7

The gene

2 source summaries

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

Request access
04
Myopathy

The disorder

10 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

2 clinical variants

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

Request access
06
Literature

Reading

13 publications

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

Request access
07
Provenance

References & sources

13 references

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

Request access