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

This dataset aims to help in building Copy Number Variants knowledge graphs.

The dataset includes:

CNV-level metadata:

Genomic location

Description

PubMed identifiers

WikiPathways identifiers

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