Disease-gene associations mined from literature

Human genes for GM2 gangliosidosis, AB variant

GM2 gangliosidosis, AB variant [DOID:4795]

A GM2 gangliosidosis that is characterized by normal hexosaminidase A (HEXA) and hexosaminidase B (HEXB) but the inability to form a functional GM2 activator complex.

Synonyms:  GM2 gangliosidosis, AB variant,  AB variant GM2 gangliosidosis,  DOID:4795,  GM2 gangliosidosis AB variant,  Tay-Sachs disease AB variant ...

Linkouts:  OMIM