Genopathy
Gene-Disorder Association · Article
Gene
MIR4713HG
MIR4713 Host Gene
Disorder
Aromatase Deficiency
First reported 1967
Supporting publications 12
Key publication · disorder Genetic mapping of phenylalanyl-sRNA synthetase in Escherichia coli.Science (New York, N.Y.) · 1967
Association Review

In brief

The association between MIR4713HG (MIR4713 Host Gene) and Aromatase Deficiency is supported by expert-curated evidence, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 138
Symptoms 27
Compounds 0
Trials 0
Publications 12
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
MIR4713HG

The gene

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

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04
Aromatase Deficiency

The disorder

12 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

26 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

138 clinical variants

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

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07
Literature

Reading

12 publications

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

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08
Provenance

References & sources

12 references

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

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