DISEASES

Disease-gene associations mined from literature

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Human genes for neuronal ceroid lipofuscinosis 5

Neuronal ceroid lipofuscinosis 5 [DOID:0110728]

A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous or compound heterozygous mutation in the CLN5 gene on chromosome 13q22.

Synonyms:  neuronal ceroid lipofuscinosis 5,  DOID:0110728,  neuronal ceroid lipofuscinosis 5 variable age of onset

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.