17q12 Knowledge Basedeletion syndrome · static snapshot
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Phenotype expansion learning, speech and behaviour 1 supporting source confidence 97% novelty 90%

New observation reported: This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in …

A source describes a new or expanded observation: “This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in both novel ( p = 2.74 × 10 −4 ) and all NDD-risk regions ( p = 4.6 × 10 −5 ) identified in this study.”

More phenotype expansion

How this was derived

Flagged by novelty language (“for the first time”, “expands the phenotype”, …) in pmc.

Generated 2026-11-13, last changed today. Dedup key expansion:6cc030. The engine re-checks this insight on every analysis run; if more sources agree, its corroboration and confidence go up and it reappears as “new”.

Evidence (1 quote)

Identification of novel driver risk genes in CNV loci associated with neurodevelopmental disorders peer_reviewed · published 2024-01-01 · live page
This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in both novel ( p = 2.74 × 10 −4 ) and all NDD-risk regions ( p = 4.6 × 10 −5 ) identified in this study.

Supporting documents (1)

DocumentSourcePublishedSeenRelevance
Identification of novel driver risk genes in CNV loci associated wi... pmc 2024-01-01 yesterday 0.45