DISEASES

Disease-gene associations mined from literature

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Human genes for Niemann-Pick disease type C1

Niemann-Pick disease type C1 [DOID:0070113]

A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of NPC1 on chromosome 18q11.2.

Synonyms:  Niemann-Pick disease type C1,  DOID:0070113,  NiemannPick disease type C1

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.