DISEASES

Disease-gene associations mined from literature

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Human genes for neuronal ceroid lipofuscinosis 13

Neuronal ceroid lipofuscinosis 13 [DOID:0110727]

A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death and has_material_basis_in homozygous or compound heterozygous mutation in the CTSF gene on chromosome 11q13.

Synonyms:  neuronal ceroid lipofuscinosis 13,  DOID:0110727,  CLN13,  neuronal ceroid lipofuscinosis 13 Kufs type

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.