DISEASES

Disease-gene associations mined from literature

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Human genes for GM1 gangliosidosis

GM1 gangliosidosis [DOID:3322]

A gangliosidosis that is characterized by progressive destruction of nerve cells in the brain and spinal cord and that has_material_basis_in mutations in the gene encoding beta-galactosidase-1 (GLB1) resulting in build up of GM1 ganglioside.

Synonyms:  GM1 gangliosidosis,  DOID:3322,  Beta-galactosidase deficiency,  deficiency of beta-galactosidase,  gangliosidosis GM1 ...

Linkouts:  OMIM #1 #2 #3

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.