DISEASES

Disease-gene associations mined from literature

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Human genes for Birt-Hogg-Dube syndrome

Birt-Hogg-Dube syndrome [DOID:0050676]

A skin disease that is characterized by the development of skin papules on the head, face and upper torso, has_material_basis_in heterozygous mutation in the gene encoding folliculin on chromosome 17p11.

Synonyms:  Birt-Hogg-Dube syndrome,  BirtHoggDube syndrome,  Birt-Hogg-Dube disease,  Birt-Hogg-Dube disorder,  Birt-Hogg-Dube syndromes ...

Linkouts:  OMIM

The disease-gene associations are derived from automatic text mining of the biomedical literature, manually curated database annotations, cancer mutation data, and genome-wide association studies. The confidence of each association is signified by stars, where ★★★★★ is the highest confidence and ★☆☆☆☆ is the lowest.

Developed by Sune Frankild, Alexander Junge, Albert Pallejà, Dhouha Grissa, Kalliopi Tsafou, and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.