17q12 Knowledge Basedeletion syndrome · static snapshot
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Phenotype expansion Research frontier 1 supporting source confidence 97% novelty 90%

New observation reported: Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Huma…

A source describes a new or expanded observation: “Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Human Phenotype Ontology (HPO) database, 89.61% (1,578) of them are novel.”

More phenotype expansion

How this was derived

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

Generated 2026-11-14, last changed today. Dedup key expansion:7f9db3. 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
Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Human Phenotype Ontology (HPO) database, 89.61% (1,578) of them are novel.

Supporting documents (1)

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