Genopathy
Gene-Disorder Association · Article
Gene
LOC117125594
H3K27ac-H3K4me1 HESC Enhancers GRCh37_chr19:13001481-13002118 And GRCh37_chr19:13002119-13002756
Disorder
Glutaric Acidemia I
First reported 1995
Supporting publications 28
Key publication · gene–disorder A G-to-T transversion at the +5 position of intron 1 in the glutaryl CoA dehydrogenase gene is associated with the Island Lake variant of glutaric acidemia type I.Human molecular genetics · 1995
Key publication · disorder LIPID CONTENT OF FOUR STRAINS OF BLASTOMYCES DERMATITIDIS OF DIFFERENT MOUSE VIRULENCE.Journal of bacteriology · 1963
Manually curated
Association Review

In brief

The association between LOC117125594 (H3K27ac-H3K4me1 HESC Enhancers GRCh37_chr19:13001481-13002118 And GRCh37_chr19:13002119-13002756) and Glutaric Acidemia I is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 139
Symptoms 89
Compounds 0
Trials 0
Publications 28
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
LOC117125594

The gene

1 source summary

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

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04
Glutaric Acidemia I

The disorder

11 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

73 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

139 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

28 publications

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

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08
Provenance

References & sources

15 references

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

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