DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for Gaucher's disease perinatal lethal

Gaucher's disease perinatal lethal [DOID:0110960]

A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in an autosomal recessive mutation of GBA on chromosome 1q22.

Synonyms:  Gaucher's disease perinatal lethal,  DOID:0110960,  Gauchers disease perinatal lethal,  Fetal Gaucher Disease,  Gaucher Disease, Collodion 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.