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Task B-004 · Type B — Disease → gene association

Which gene is deficient in Fabry disease and what is the resulting enzyme?

Difficulty
easy
Rarity stratum
high
Evidence type
review + primary_research consensus
MONDO ID
MONDO:0010526
Curator notes

None material.

Generation outcome

Abstained
No
Abstention correct
Yes
Gold in retrieved
2.00
Generation cost
$0.000388
Claims
2
Supported
2
Contradicted
0
Unverifiable
0

Gold documents (4)

  • Fabry disease cardiomyopathy: A state-of-the-art review.
    pubmed:40840785retrieved ✓source
  • Pathologic substrate of gastropathy in Anderson-Fabry disease.
    pubmed:32571412not retrievedsource
  • Anderson-Fabry disease in heart failure.
    pubmed:29909504retrieved ✓source
  • Methylome Profiling in Fabry Disease in Clinical Practice: A Proof of Concept.
    pubmed:36292965not retrievedsource

Retrieved documents (6)

  • Treatment of Anderson-Fabry Disease.
    pubmed:32183665
  • Anderson-Fabry disease in heart failure.
    pubmed:29909504gold
  • Fabry disease cardiomyopathy: A state-of-the-art review.
    pubmed:40840785gold
  • [Fabry disease].
    pubmed:28104284
  • Fabry disease.
    pubmed:23931807
  • Cardiac magnetic resonance in Fabry disease.
    pubmed:37125302

Generated claims (2)

supportedconfidence 1.00

The gene deficient in Fabry disease is the GLA gene.

pubmed:29909504pubmed:23931807pubmed:32183665pubmed:40840785pubmed:28104284pubmed:37125302
supportedconfidence 1.00

The resulting enzyme deficiency in Fabry disease is alpha-galactosidase A.

pubmed:29909504pubmed:23931807pubmed:32183665pubmed:40840785pubmed:28104284pubmed:37125302