Genopathy
Gene-Disorder Association · Article
Gene
ERCC2
ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit
Disorder
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
First reported 1977
Key publication · disorder Cultured neuroblastoma cells and halothane: effects on cell growth and macromolecular synthesis.Anesthesiology · 1977
Manually curated
Association Review

In brief

The association between ERCC2 (ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit) and Carnitine Palmitoyltransferase Ii Deficiency, Infantile is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 73
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
ERCC2

The gene

2 source summaries

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

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04
Carnitine Palmitoyltransferase Ii Deficiency, Infantile

The disorder

17 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

56 clinical features

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

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06
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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07
Provenance

References & sources

8 references

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

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