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Task B-005 · Type B — Disease → gene association

What genetic mutation causes Huntington disease and what is its molecular nature?

Difficulty
easy
Rarity stratum
high
Evidence type
primary_research + case_report
MONDO ID
MONDO:0007739
Curator notes

None material — CAG-repeat expansion in HTT is consistently described.

Generation outcome

Abstained
No
Abstention correct
Yes
Gold in retrieved
2.00
Generation cost
$0.000345
Claims
3
Supported
3
Contradicted
0
Unverifiable
0

Gold documents (2)

  • Poly ADP-ribose signaling is dysregulated in Huntington disease.
    pubmed:39331414retrieved ✓source
  • Huntington's Disease: A Report of an Interesting Case and Literature Review.
    pubmed:38567236retrieved ✓source

Retrieved documents (6)

  • Emerging therapeutics in Huntington's disease.
    pubmed:34319843
  • Poly ADP-ribose signaling is dysregulated in Huntington disease.
    pubmed:39331414gold
  • Huntington's Disease: A Report of an Interesting Case and Literature Review.
    pubmed:38567236gold
  • [Gene Therapy for Huntington Disease].
    pubmed:37040787
  • Huntington disease.
    pubmed:29325616
  • Autophagy and Polyglutamine Disease.
    pubmed:32671744

Generated claims (3)

supportedconfidence 0.95

Huntington disease is caused by a cytosine, adenine, guanine (CAG) expansion in the Huntingtin (HTT) gene.

pubmed:39331414
supportedconfidence 0.95

The CAG expansion translates to an expanded polyglutamine tract in the HTT protein.

pubmed:39331414
supportedconfidence 0.90

The mutation's molecular nature involves the accumulation of polyglutamine repeats that lead to neurodegeneration.

pubmed:39331414