DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for Niemann-Pick disease type C2

Niemann-Pick disease type C2 [DOID:0070114]

A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of NPC2 on chromosome 14q24.3.

Synonyms:  Niemann-Pick disease type C2,  DOID:0070114,  NiemannPick disease type C2

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.