Genopathy
Gene-Disorder Association · Article
Gene
LIMS2
LIM Zinc Finger Domain Containing 2
Disorder
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
First reported 2014
Supporting publications 1
Key publication · disorder Genetic basis of limb-girdle muscular dystrophies: the 2014 update.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2014
Manually curated
Association Review

In brief

The association between LIMS2 (LIM Zinc Finger Domain Containing 2) and Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic variants.

Sources 2
Clinical variants 294
Symptoms 23
Compounds 0
Trials 0
Publications 1
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

2 sources

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

Request access
03
LIMS2

The gene

1 source summary

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

Request access
04
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue

The disorder

6 database identifiers

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

Request access
05
Phenotype

Clinical features

12 clinical features

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

Request access
06
ClinVar and variant evidence

Genetic basis

294 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

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

Request access
08
Literature

Reading

1 publication

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

Request access
09
Provenance

References & sources

5 references

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

Request access