Preprint: SysNDD database curates over 4,200 gene-disease entities for neurodevelopmental disorders

A preprint on bioRxiv describes SysNDD, an open-access resource designed to systematically catalogue the genetic basis of neurodevelopmental disorders (NDDs) — a clinically and genetically heterogeneous group of conditions including intellectual disability, autism spectrum disorder, and developmental epilepsies.

The database currently contains 4,275 curated entities drawn from 4,932 publications. Of these, 3,758 entities involving 3,271 genes describe NDDs specifically. Each entity represents a distinct gene–inheritance pattern–disease association and carries standardised confidence categories, phenotype annotations, and variant information. Crucially, every entity retains its full curation history, enabling the resource to update confidence classifications as new evidence accumulates — a design choice that addresses one of the persistent limitations of static gene–disease databases.

Neurodevelopmental genetics is an area where new gene–disease relationships are described at high frequency and where distinguishing established from emerging associations directly affects clinical variant interpretation. Resources such as SysNDD contribute to standardising evidence thresholds across diagnostic laboratories and research groups. The preprint has not yet been peer-reviewed. Genetic counsellors, clinical scientists in genomic medicine, and researchers working on NDDs will find the database architecture and curation model of interest, particularly the dynamic confidence scoring system.