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Task C-002 · Type C — Gene → disease evidence

What disease results from activating mutations in ACVR1 (ALK2)?

Difficulty
easy
Rarity stratum
sparse
Evidence type
review consensus
MONDO ID
MONDO:0007606
Curator notes

Inverse-direction framing of B-001, same purpose as C-001.

Generation outcome

Abstained
No
Abstention correct
Yes
Gold in retrieved
2.00
Generation cost
$0.000331
Claims
1
Supported
1
Contradicted
0
Unverifiable
0

Gold documents (2)

  • Fibrodysplasia ossificans progressiva.
    pubmed:18328989retrieved ✓source
  • Fibrodysplasia Ossificans Progressiva: A Challenging Diagnosis.
    pubmed:34440363retrieved ✓source

Retrieved documents (6)

  • Fibrodysplasia Ossificans Progressiva: A Report of Four Cases.
    pubmed:35475090
  • Fibrodysplasia ossificans progressiva.
    pubmed:18328989gold
  • Alkaptonuria in Russia: mutational spectrum and novel variants.
    pubmed:33621656
  • Fibrodysplasia Ossificans Progressiva: A Challenging Diagnosis.
    pubmed:34440363gold
  • Compound KTI-2338 Inhibits ACVR1 Receptor Signaling in Fibrodysplasia Ossificans Progressiva.
    pubmed:41471105
  • Fibrodysplasia ossificans progressiva in a 3-year-old female patient.
    pubmed:36867574

Generated claims (1)

supportedconfidence 1.00

Activating mutations in ACVR1 (ALK2) result in Fibrodysplasia Ossificans Progressiva (FOP).

pubmed:41471105pubmed:18328989pubmed:36867574pubmed:34440363pubmed:35475090