Task B-002 · Type B — Disease → gene association

Which gene is mutated in Alexander disease?

Difficulty

easy

Rarity stratum

sparse

Evidence type

review + case_report consensus

MONDO ID

MONDO:0008752

Curator notes

None material — GFAP association is uniformly stated across all gold documents.

Generation outcome

Abstained

Abstention correct

Yes

Gold in retrieved

4.00

Generation cost

$0.000257

Claims

Supported

Contradicted

Unverifiable

Alexander Disease.
pubmed:28112050retrieved ✓source
Alexander disease.
pubmed:29478608retrieved ✓source
Clinical characteristics of Alexander disease.
pubmed:32847470retrieved ✓source
Adult-Onset Alexander Disease: New Causal Sequence Variant in the GFAP Gene.
pubmed:35620133retrieved ✓source

Adult-Onset Alexander Disease: New Causal Sequence Variant in the GFAP Gene.
pubmed:35620133gold
Juvenile Alexander Disease: A Rare Leukodystrophy.
pubmed:35698668
Neuroglial Pathophysiology of Leukodystrophies.
pubmed:40500501
Alexander Disease.
pubmed:28112050gold
Alexander disease.
pubmed:29478608gold
Clinical characteristics of Alexander disease.
pubmed:32847470gold

supportedconfidence 1.00

Alexander disease is caused by mutations in the GFAP gene.

pubmed:28112050pubmed:32847470pubmed:35620133pubmed:35698668pubmed:29478608pubmed:40500501