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Task B-007 · Type B — Disease → gene association

Which gene is most commonly mutated in Rett syndrome?

Difficulty
easy
Rarity stratum
high
Evidence type
review + primary_research consensus
MONDO ID
MONDO:0010726
Curator notes

pubmed:28544139 explicitly notes CDKL5 and FOXG1 as additional (less common) causal genes for Rett-like presentations — a complete answer should note MECP2 is the majority but not exclusive cause.

Generation outcome

Abstained
No
Abstention correct
Yes
Gold in retrieved
3.00
Generation cost
$0.000245
Claims
2
Supported
2
Contradicted
0
Unverifiable
0

Gold documents (3)

  • [Rett syndrome: from pathophysiology to developments in treatment].
    pubmed:39331775retrieved ✓source
  • Sphingolipid Metabolism Perturbations in Rett Syndrome.
    pubmed:31658741retrieved ✓source
  • RettBASE: Rett syndrome database update.
    pubmed:28544139retrieved ✓source

Retrieved documents (6)

  • Rett syndrome: interferon-γ to the rescue?
    pubmed:39496971
  • [Rett syndrome: from pathophysiology to developments in treatment].
    pubmed:39331775gold
  • Rett Syndrome.
    pubmed:22670134
  • Rett syndrome and genetic drift.
    pubmed:10372903
  • RettBASE: Rett syndrome database update.
    pubmed:28544139gold
  • Sphingolipid Metabolism Perturbations in Rett Syndrome.
    pubmed:31658741gold

Generated claims (2)

supportedconfidence 0.90

Rett syndrome is caused by mutations in the X-linked gene MECP2.

pubmed:39496971pubmed:31658741pubmed:39331775pubmed:22670134
supportedconfidence 0.80

Mutations in MECP2 are the major genetic cause of Rett syndrome.

pubmed:28544139