Genopathy
Gene-Disorder Association · Article
Gene
TTN
Titin
Disorder
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
First reported 2014
Supporting publications 225
Key publication · gene–disorder Atypical phenotypes in titinopathies explained by second titin mutations.Annals of neurology · 2014
Key publication · disorder Neuropathy in uremia.The New England journal of medicine · 1970
Manually curated
Association Review

In brief

The association between TTN (Titin) and Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic and likely-pathogenic variants.

Sources 2
Clinical variants 23,872
Symptoms 20
Compounds 0
Trials 0
Publications 225
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
TTN

The gene

1 source summary

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

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04
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10

The disorder

6 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

10 clinical features

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

23,872 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
Literature

Reading

225 publications

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

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09
Provenance

References & sources

12 references

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

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