DISEASES

Disease-gene associations mined from literature

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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

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.