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Task C-001 · Type C — Gene → disease evidence
What disease is caused by pathogenic variants in GFAP?
Difficulty
easy
Rarity stratum
sparse
Evidence type
review consensus
MONDO ID
MONDO:0008752
Curator notes
Inverse-direction framing of B-002, sharing the same evidence base — included to test whether retrieval quality is symmetric with respect to query direction (gene-first vs. disease-first phrasing), per RQ1.
Generation outcome
Abstained
No
Abstention correct
Yes
Gold in retrieved
1.00
Generation cost
$0.000271
Claims
1
Supported
1
Contradicted
0
Unverifiable
0
Gold documents (3)
- Alexander Disease.
- Alexander disease.
- Clinical characteristics of Alexander disease.
Retrieved documents (6)
- Adult-Onset Alexander Disease: New Causal Sequence Variant in the GFAP Gene.pubmed:35620133
- Mutations in GFAP Alter Early Lineage Commitment of Organoids.pubmed:40735838
- Juvenile Alexander Disease: A Rare Leukodystrophy.pubmed:35698668
- Glial fibrillary acidic protein: from intermediate filament assembly and gliosis to neurobiomarker.pubmed:25975510
- Neuroglial Pathophysiology of Leukodystrophies.pubmed:40500501
- Alexander disease.pubmed:29478608gold
Generated claims (1)
supportedconfidence 0.95
Pathogenic variants in GFAP cause Alexander disease.
pubmed:35620133pubmed:40735838pubmed:35698668pubmed:29478608pubmed:40500501pubmed:25975510