Genopathy
Gene-Disorder Association · Article
Gene
MYL11
Myosin Light Chain 11
Disorder
Distal Arthrogryposis
First reported 1950
Key publication · disorder [Arthrogryposis multiplex congenita, a not infrequent, but rarely described deformity].Schweizerische medizinische Wochenschrift · 1950
Manually curated
Association Review

In brief

The association between MYL11 (Myosin Light Chain 11) and Distal Arthrogryposis is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording likely-pathogenic variants.

Sources 2
Clinical variants 4
Symptoms 9
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.

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
MYL11

The gene

1 source summary

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

Request access
04
Distal Arthrogryposis

The disorder

14 database identifiers

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

Request access
05
ClinVar and variant evidence

Genetic basis

4 clinical variants

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

Request access
06
Provenance

References & sources

5 references

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

Request access