Genopathy
Gene-Disorder Association · Article
Gene
LOC126861535
CDK7 Strongly-Dependent Group 2 Enhancer GRCh37_chr12:56087579-56088778
Disorder
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
First reported 1998
Supporting publications 2
Key publication · gene–disorder Mutations in the integrin alpha7 gene cause congenital myopathy.Nature genetics · 1998
Key publication · disorder The Minnesota Child Development Inventory: a valid maternal-report form for assessing development in infancy.Journal of developmental and behavioral pediatrics : JDBP · 1986
Manually curated
Association Review

In brief

The association between LOC126861535 (CDK7 Strongly-Dependent Group 2 Enhancer GRCh37_chr12:56087579-56088778) and Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 142
Symptoms 21
Compounds 0
Trials 0
Publications 2
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
LOC126861535

The gene

1 source summary

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

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04
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency

The disorder

11 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

12 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

142 clinical variants

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

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07
Literature

Reading

2 publications

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

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08
Provenance

References & sources

7 references

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

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