Genopathy
Gene-Disorder Association · Article
Gene
MYH9
Myosin Heavy Chain 9
Disorder
Deafness, Autosomal Recessive 63
First reported 2004
Key publication · disorder Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.American journal of medical genetics. Part A · 2004
Association Review

In brief

The association between MYH9 (Myosin Heavy Chain 9) and Deafness, Autosomal Recessive 63 is supported by expert-curated evidence, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 0
Symptoms 7
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
MYH9

The gene

2 source summaries

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

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04
Deafness, Autosomal Recessive 63

The disorder

8 database identifiers

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

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05
Phenotype

Clinical features

3 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
Provenance

References & sources

5 references

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

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