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.

Currently maintained by Qingyao Huang at Swiss Institute of Bioinformatics, University of Zurich. Licensed under CC BY 4.0.