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Task B-008 · Type B — Disease → gene association

Which gene's loss of function causes Angelman syndrome, and what is notable about its inheritance pattern?

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

The genomic-imprinting mechanism (only the MATERNAL UBE3A copy is expressed in neurons) is the specific detail that distinguishes a complete answer from a superficial one — tests whether the system captures this nuance, not just the gene name.

Generation outcome

Abstained
No
Abstention correct
Yes
Gold in retrieved
3.00
Generation cost
$0.000319
Claims
2
Supported
2
Contradicted
0
Unverifiable
0

Gold documents (3)

  • Genotype-Phenotype Correlations in Angelman Syndrome.
    pubmed:34203304retrieved ✓source
  • Angelman syndrome: a journey through the brain.
    pubmed:32087041retrieved ✓source
  • Angelman Syndrome: Identification and Management.
    pubmed:28494826retrieved ✓source

Retrieved documents (6)

  • Precision Medicine in Angelman Syndrome.
    pubmed:39168152
  • Genotype-Phenotype Correlations in Angelman Syndrome.
    pubmed:34203304gold
  • Current and emerging treatment options for Angelman syndrome.
    pubmed:37599585
  • Angelman Syndrome: Identification and Management.
    pubmed:28494826gold
  • Angelman Syndrome: Multidisciplinary Management.
    pubmed:40643417
  • Angelman syndrome: a journey through the brain.
    pubmed:32087041gold

Generated claims (2)

supportedconfidence 1.00

The loss of function of the UBE3A gene causes Angelman syndrome.

pubmed:32087041pubmed:39168152pubmed:34203304pubmed:40643417pubmed:28494826pubmed:37599585
supportedconfidence 1.00

The inheritance pattern of Angelman syndrome is maternally inherited.

pubmed:32087041pubmed:39168152pubmed:34203304pubmed:40643417pubmed:28494826pubmed:37599585