Rare Disease Gene Dataset

A curated dataset mapping rare diseases to their associated genes, extracted from Orphadata.

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Data Format

Rare Disease Genes

Maps rare diseases to their associated genes (8,374 associations):

• disease - Name of the rare disease
• gene - Gene symbol
• gene_name - Full gene name

Ensembl Gene Annotations

Basic annotations for 78,691 human genes:

• ensembl_gene_id - Unique Ensembl identifier
• gene_name - Gene symbol
• chromosome - Chromosome location (1-22, X, Y, MT)
• start / end - Genomic coordinates
• strand - DNA strand (1 or -1)
• biotype - Gene type (protein_coding, etc.)
• description - Gene description

Sources

• Rare Disease Genes: Orphadata Product 6 - Orphanet's open-access rare disease database
• Gene Annotations: Ensembl BioMart - Human genome annotations