Genopathy
Gene-Disorder Association · Article
Gene
MYLK
Myosin Light Chain Kinase
Disorder
Aortic Aneurysm, Familial Thoracic 7
First reported 1992
Supporting publications 11
Key publication · disorder Identification and expression of a cDNA clone encoding aspartate aminotransferase in carrot.Plant physiology · 1992
Manually curated
Association Review

In brief

The association between MYLK (Myosin Light Chain Kinase) and Aortic Aneurysm, Familial Thoracic 7 is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and causative variation.

Sources 4
Clinical variants 1,859
Symptoms 12
Compounds 0
Trials 0
Publications 11
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

4 sources

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

Request access
03
MYLK

The gene

2 source summaries

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

Request access
04
Aortic Aneurysm, Familial Thoracic 7

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

5 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

1,859 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

11 publications

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

Request access
09
Provenance

References & sources

15 references

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

Request access