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Task C-004 · Type C — Gene → disease evidence

What disease is caused by mutations in the copper-transporting ATPase gene ATP7A?

Difficulty
easy
Rarity stratum
sparse
Evidence type
review consensus
MONDO ID
MONDO:0010651
Curator notes

Inverse-direction framing of B-010, same purpose as C-001/C-002/C-003.

Generation outcome

Abstained
No
Abstention correct
Yes
Gold in retrieved
1.00
Generation cost
$0.000280
Claims
1
Supported
1
Contradicted
0
Unverifiable
0

Gold documents (2)

  • Menkes disease.
    pubmed:17989919retrieved ✓source
  • Early clinical signs and treatment of Menkes disease.
    pubmed:35242581not retrievedsource

Retrieved documents (6)

  • Copper impairs the intestinal barrier integrity in Wilson disease.
    pubmed:38986805
  • [Wilson disease].
    pubmed:29340742
  • Menkes disease: Oral administration of glyoxal-bis(N(4)-methylthiosemicarbazonato)-copper(II) rescues the macular mouse.
    pubmed:30127521
  • Menkes disease.
    pubmed:17989919gold
  • Menkes disease.
    pubmed:19888294
  • Menkes disease and response to copper histidine: An Indian case series.
    pubmed:28298846

Generated claims (1)

supportedconfidence 1.00

Menkes disease is caused by mutations in the copper-transporting ATPase gene ATP7A.

pubmed:17989919pubmed:30127521pubmed:19888294pubmed:28298846