Genopathy
Gene-Disorder Association · Article
Gene
LOC114827850
VISTA Enhancer Hs2149
Disorder
Cardiomyopathy, Familial Hypertrophic, 10
First reported 2001
Supporting publications 11
Key publication · gene–disorder Familial hypertrophic cardiomyopathy mutations in the regulatory light chains of myosin affect their structure, Ca2+ binding, and phosphorylation.The Journal of biological chemistry · 2001
Key publication · disorder Idiopathic hypertrophic subaortic stenosis: detection by thallium 201 myocardial perfusion imaging.The New England journal of medicine · 1975
Manually curated
Association Review

In brief

The association between LOC114827850 (VISTA Enhancer Hs2149) and Cardiomyopathy, Familial Hypertrophic, 10 is well established and manually curated, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 92
Symptoms 33
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

1 source

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

Request access
03
LOC114827850

The gene

1 source summary

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

Request access
04
Cardiomyopathy, Familial Hypertrophic, 10

The disorder

7 database identifiers

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

Request access
05
Phenotype

Clinical features

15 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

92 clinical variants

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

Request access
07
Literature

Reading

11 publications

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

Request access
08
Provenance

References & sources

13 references

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

Request access