DISEASES

Disease-gene associations mined from literature

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Human genes for Fazio-Londe disease

Fazio-Londe disease [DOID:0080632]

A progressive bulbar palsy that is characterized by motor, sensory and cranial neuronopathy and that has_material_basis_in homozygous mutation in the C20ORF54 gene on chromosome 20p13.

Synonyms:  Fazio-Londe disease,  DOID:0080632,  FazioLonde disease,  Fazio-Londe disorder,  Fazio-Londe syndrome ...

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.