Genopathy
Gene-Disorder Association · Article
Gene
MIR6886
MicroRNA 6886
Disorder
Hypercholesterolemia, Familial, 1
First reported 1984
Supporting publications 44
Key publication · gene–disorder Low density lipoprotein receptor mutations in South African homozygous familial hypercholesterolemic patients.Arteriosclerosis (Dallas, Tex.) · 1984
Key publication · disorder Familial hypercholesterolemia, xanthomatosis and coronary heart disease.The American journal of medicine · 1959
Manually curated
Association Review

In brief

The association between MIR6886 (MicroRNA 6886) and Hypercholesterolemia, Familial, 1 is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 29
Symptoms 9
Compounds 0
Trials 0
Publications 44
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

1 source

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

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03
MIR6886

The gene

1 source summary

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

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04
Hypercholesterolemia, Familial, 1

The disorder

7 database identifiers

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

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05
Phenotype

Clinical features

5 clinical features

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

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06
ClinVar and variant evidence

Genetic basis

29 clinical variants

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

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07
Population genetics

GWAS signals

1 GWAS phenotype

Gene-associated GWAS phenotypes matching the disorder, with best SNP, score, risk-allele frequency and effect size.

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08
Literature

Reading

44 publications

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

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09
Provenance

References & sources

13 references

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

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