DISEASES

Disease-gene associations mined from literature

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Human genes for Niemann-Pick disease type B

Niemann-Pick disease type B [DOID:0070112]

A Niemann-Pick disease characterized by visceral involvement only and survival into adulthood that has_material_basis_in an autosomal recessive mutation of SMPD1 on chromosome 11p15.4.

Synonyms:  Niemann-Pick disease type B,  DOID:0070112,  NiemannPick disease type B,  Niemann-Pick disease type Bs

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.