SysNDD: A Systematic Database for Neurodevelopmental Disorders
- 1Berlin Institute of Health at Charite, Universitaetsmedizin Berlin, Center of Functional Genomics, Berlin, Germany; Department of Human Genetics, Labor Berlin-C
Abstract
Neurodevelopmental disorders (NDDs) are clinically and genetically heterogeneous, and evidence linking additional genes to disease evolves rapidly. We developed SysNDD, an open-access, expert-curated resource that represents distinct gene-inheritance-disease associations as entities with standardized confidence, phenotype, and variant annotations. Each entity retains its curation history, so its evidence category can change as evidence accumulates. Currently, SysNDD contains 4,275 entities curated from 4,932 publications. Of these, 3,758 entities involving 3,271 genes describe NDDs; the remainder record non-NDD disorders, nearly all linked to NDD-associated genes, included for completeness. Regarding NDD evidence categories, 1,838 genes are Definitive, 179 Moderate, 1,248 Limited, and 6 Refuted. The entity model captures inheritance-specific disorders, including 220 genes with both autosomal dominant and autosomal recessive NDD associations. Comparison with seven other NDD gene resources showed complementary coverage, and evidence categories largely agreed with those of ClinGen, Gene2Phenotype, and PanelApp for shared gene-disease pairs. NDD genes formed distinct molecular modules, whereas associated disorders formed broad, overlapping phenotype groups that corresponded to those modules only selectively. SysNDD provides a continuously maintained, programmatically accessible framework for gene-disease evidence assessment, inheritance-aware interpretation, and systematic NDD research.
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BibTeX
@misc{popp2026sysndd,
title = {{SysNDD: A Systematic Database for Neurodevelopmental Disorders}},
author = {B. Popp and S. Frueh and M. F. Altay and H. Van Esch and A. Caliebe and N. C. Bramswig and F. Hummel and S. Gverdtsiteli and T. Kleefstra and A. Schenck and Z. Tuemer and A. Verloes and C. Zweier},
howpublished = {bioRxiv},
year = {2026},
month = sep,
doi = {10.64898/2026.09.29.755401},
url = {https://www.biorxiv.org/content/10.64898/2026.09.29.755401v1},
note = {CC BY},
}
RIS
TY - UNPB
TI - SysNDD: A Systematic Database for Neurodevelopmental Disorders
AU - B. Popp
AU - S. Frueh
AU - M. F. Altay
AU - H. Van Esch
AU - A. Caliebe
AU - N. C. Bramswig
AU - F. Hummel
AU - S. Gverdtsiteli
AU - T. Kleefstra
AU - A. Schenck
AU - Z. Tuemer
AU - A. Verloes
AU - C. Zweier
PY - 2026
DA - 2026/09/29
PB - bioRxiv
DO - 10.64898/2026.09.29.755401
UR - https://www.biorxiv.org/content/10.64898/2026.09.29.755401v1
AB - Neurodevelopmental disorders (NDDs) are clinically and genetically heterogeneous, and evidence linking additional genes to disease evolves rapidly. We developed SysNDD, an open-access, expert-curated resource that represents distinct gene-inheritance-disease associations as entities with standardized confidence, phenotype, and variant annotations. Each entity retains its curation history, so its evidence category can change as evidence accumulates. Currently, SysNDD contains 4,275 entities curated from 4,932 publications. Of these, 3,758 entities involving 3,271 genes describe NDDs; the remainder record non-NDD disorders, nearly all linked to NDD-associated genes, included for completeness. Regarding NDD evidence categories, 1,838 genes are Definitive, 179 Moderate, 1,248 Limited, and 6 Refuted. The entity model captures inheritance-specific disorders, including 220 genes with both autosomal dominant and autosomal recessive NDD associations. Comparison with seven other NDD gene resources showed complementary coverage, and evidence categories largely agreed with those of ClinGen, Gene2Phenotype, and PanelApp for shared gene-disease pairs. NDD genes formed distinct molecular modules, whereas associated disorders formed broad, overlapping phenotype groups that corresponded to those modules only selectively. SysNDD provides a continuously maintained, programmatically accessible framework for gene-disease evidence assessment, inheritance-aware interpretation, and systematic NDD research.
ER -