Genopathy
Gene-Disorder Association · Article
Gene
GFAP
Glial Fibrillary Acidic Protein
Disorder
Leukodystrophy
First reported 2004
Supporting publications 3
Key publication · gene–disorder Dominantly-inherited adult-onset leukodystrophy with palatal tremor caused by a mutation in the glial fibrillary acidic protein gene.Movement disorders : official journal of the Movement Disorder Society · 2004
Key publication · disorder [Familial leukodystrophy and spleno-hepatic determination characterizing a general metabolic disorder].Revue neurologique · 1954
Manually curated
Association Review

In brief

The association between GFAP (Glial Fibrillary Acidic Protein) and Leukodystrophy is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 10
Compounds 0
Trials 0
Publications 3
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
GFAP

The gene

1 source summary

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

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04
Leukodystrophy

The disorder

7 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

3 publications

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

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06
Provenance

References & sources

6 references

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

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