Rare diseases and genes linkset from Orphanet

The Orphanet Linkset
This dataset provides a CyTargetlinker compatible linkset to link rare genetic diseases to their associated genes. The source of this information is Orphanet.

Orphanet: an online rare disease and orphan drug data base. Copyright, INSERM 1999. Available on https://www.orpha.net. Accessed May 2022.


Rare diseases and genes from Orphanet linkset Version May 2022

The database content was retrieved through accessing the ftp servers.

Linkset Date Linkset version Species Supported identifiers
Orphanet.xgmml 2022-05-16 Orphanet Homo sapiens (hsa) OrphaID, En,H,L