Genopathy
Gene-Disorder Association · Article
Gene
NHLRC1
NHL Repeat Containing E3 Ubiquitin Protein Ligase 1
Disorder
Disorder Of Keton Body Transport
Manually curated
Association Review

In brief

The association between NHLRC1 (NHL Repeat Containing E3 Ubiquitin Protein Ligase 1) and Disorder Of Keton Body Transport is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 0
Compounds 0
Trials 0
Publications 0
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
NHLRC1

The gene

1 source summary

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

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04
Disorder Of Keton Body Transport

The disorder

3 database identifiers

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

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05
Provenance

References & sources

2 references

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

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