Disease-gene associations mined from literature

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