Genopathy
Gene-Disorder Association · Article
Gene
MYO1A
Myosin IA
Disorder
Deafness, Autosomal Dominant 48
First reported 1998
Key publication · disorder Mapping of the alpha-tectorin gene (TECTA) to mouse chromosome 9 and human chromosome 11: a candidate for human autosomal dominant nonsyndromic deafness.Genomics · 1998
Manually curated
Association Review

In brief

The association between MYO1A (Myosin IA) and Deafness, Autosomal Dominant 48 is well established and manually curated, supported by 2 contributing sources, 1 of them expert-curated.

Sources 2
Clinical variants 11
Symptoms 2
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

2 sources

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

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03
MYO1A

The gene

1 source summary

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

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04
Deafness, Autosomal Dominant 48

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

1 clinical feature

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

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06
ClinVar and variant evidence

Genetic basis

11 clinical variants

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

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07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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08
Provenance

References & sources

5 references

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

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