DISEASES

Disease-gene associations mined from literature

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Human genes for neuronal ceroid lipofuscinosis 1

Neuronal ceroid lipofuscinosis 1 [DOID:0110721]

A neuronal ceroid lipofuscinosis that is characterized by variable age of onset of symptoms (progressive dementia, seizures, and progressive visual failure) and lipopigment pattern of granular osmiophilic deposits, and has_material_basis_in homozygous or compound heterozygous mutation in the PPT1 gene on chromosome 1p34.

Synonyms:  neuronal ceroid lipofuscinosis 1,  DOID:0110721,  neuronal ceroid lipofuscinosis 1 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.