DISEASES

Disease-gene associations mined from literature

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Human genes for Kufor-Rakeb syndrome

Kufor-Rakeb syndrome [DOID:0060556]

An early-onset Parkinson's disease that is characterized by supranuclear gaze palsy, spasticity, and dementia and has_material_basis_in homozygous or compound heterozygous mutation in a lysosomal type 5 ATPase encoding gene on chromosome 1p36.

Synonyms:  Kufor-Rakeb syndrome,  DOID:0060556,  KuforRakeb syndrome,  Kufor-Rakeb disease,  Kufor-Rakeb disorder ...

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.