DISEASES

Disease-gene associations mined from literature

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Human genes for hereditary spastic paraplegia 48

Hereditary spastic paraplegia 48 [DOID:0110800]

A hereditary spastic paraplegia that has_material_basis_in mutation in the AP5Z1 gene on chromosome 7p22.1.

Synonyms:  hereditary spastic paraplegia 48,  DOID:0110800,  familial spastic paraplegia 48,  autosomal recessive spastic paraplegia 48,  autosomal recessive spastic paraplegia type 48 ...

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.