Genopathy
Gene-Disorder Association · Article
Gene
FKRP
Fukutin Related Protein
Disorder
Limb-Girdle Muscular Dystrophy
First reported 2001
Supporting publications 39
Key publication · gene–disorder Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.Human molecular genetics · 2001
Key publication · disorder Muscular dystrophy in Northern Ireland. III. Linkage data with particular reference to autosomal limb girdle muscular dystrophy.Annals of human genetics · 1955
Manually curated
Association Review

In brief

The association between FKRP (Fukutin Related Protein) and Limb-Girdle Muscular Dystrophy is a manually-curated gene–disease association, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 2
Symptoms 0
Compounds 0
Trials 0
Publications 39
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
FKRP

The gene

1 source summary

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

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04
Limb-Girdle Muscular Dystrophy

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
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.

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06
Literature

Reading

39 publications

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

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07
Provenance

References & sources

12 references

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

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