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To better describe rare disorders of genetic origin, Orphanet provides information on every gene related to a rare disorder. The relationship between genes and their related rare disorders is provided.

This information includes the genetic international nomenclature, the gene typology (gene with protein product, locus, non-coding RNA), the chromosomal location, the cross-mappings with international genetic databases.

Enter your requested gene symbol/name, disease name or gene/disease MIM number (Online Mendelian Inheritance in Man).

You can access aggregated datasets from Orphanet concerning genes associated with rare diseases via Orphadata.


The provided information is based on published scientific articles, surveys of expert websites and expert advice. Candidate genes and biomarkers are excluded from the inventory unless a clinical test is made available in one of the Orphanet consortium’s countries. Information in Orphanet is updated on a regular basis. It may happen that new discoveries are made in between updates and do not yet appear. Professionals are always encouraged to consult the most recent publications before making any decisions based on the information provided.

Information in Orphanet is not intended to replace professional health care. Orphanet cannot be held responsible for harmful, truncated or erroneous use of any information found in the Orphanet database.

Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.