Genopathy
Gene-Disorder Association · Article
Gene
GJC2
Gap Junction Protein Gamma 2
Disorder
Pelizaeus Merzbacher Like Disease
First reported 2007
Supporting publications 9
Key publication · gene–disorder Loss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like disease.Molecular and cellular neurosciences · 2007
Key publication · disorder The influence of a protein-methionine low diet on behavior of the rat offspring.Polish journal of pharmacology and pharmacy · 1980
Manually curated
Association Review

In brief

The association between GJC2 (Gap Junction Protein Gamma 2) and Pelizaeus Merzbacher Like Disease is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 0
Compounds 0
Trials 0
Publications 9
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
GJC2

The gene

2 source summaries

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

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04
Pelizaeus Merzbacher Like Disease

The disorder

5 database identifiers

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

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05
Literature

Reading

9 publications

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

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06
Provenance

References & sources

12 references

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

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