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Task C-003 · Type C — Gene → disease evidence

What disease results from loss of function of the maternal UBE3A allele?

Difficulty
easy
Rarity stratum
medium
Evidence type
review consensus
MONDO ID
MONDO:0007113
Curator notes

Inverse-direction framing of B-008, sharing the same evidence base — tests query-direction symmetry per RQ1, same purpose as C-001/C-002 in the v0 task set.

Generation outcome

Abstained
No
Abstention correct
Yes
Gold in retrieved
2.00
Generation cost
$0.000284
Claims
1
Supported
1
Contradicted
0
Unverifiable
0

Gold documents (2)

  • Genotype-Phenotype Correlations in Angelman Syndrome.
    pubmed:34203304retrieved ✓source
  • Angelman syndrome: a journey through the brain.
    pubmed:32087041retrieved ✓source

Retrieved documents (6)

  • Precision Medicine in Angelman Syndrome.
    pubmed:39168152
  • Genotype-Phenotype Correlations in Angelman Syndrome.
    pubmed:34203304gold
  • Angelman Syndrome: Multidisciplinary Management.
    pubmed:40643417
  • Ube3a unsilencer for the potential treatment of Angelman syndrome.
    pubmed:38977672
  • Angelman syndrome: a journey through the brain.
    pubmed:32087041gold
  • Prenatal delivery of a therapeutic antisense oligonucleotide achieves broad biodistribution in the brain and ameliorates Angelman syndrome phenotype in mice.
    pubmed:38327047

Generated claims (1)

supportedconfidence 1.00

The disease resulting from loss of function of the maternal UBE3A allele is Angelman syndrome (AS).

pubmed:39168152pubmed:32087041pubmed:34203304pubmed:38327047pubmed:38977672pubmed:40643417