CNVPathwayAtlas: A curated dataset of rare copy number variants associated with neurodevelopmental and neuropsychiatric disorders

This dataset uploaded in XLSX and JSON formats aims to help in building Copy Number Variants knowledge graphs. For interactive interaction with the dataset access CNVPatwhayAtlas The dataset includes: CNV-level metadata: Genomic location Description PubMed identifiers WikiPathways identifiers; Genes in CNV molecular pathways Gene-level metadata: HGNC symbol, name, and identifiers Entrez, Ensembl, and Uniprot identifiers Orphanet disorder metadata: Orphacodes Cause (deletion/duplication), definition, prevalence OMIM identifiers Phenotype information (frequency specific) and their HPO identifiers