tay-sachs disease specific cell type Gene Set

Dataset TISSUES Text-mining Tissue Protein Expression Evidence Scores
Category structural or functional annotations
Type tissue
Description Tay-Sachs disease is a lysosomal disease (lipidosis) in which hexosaminidase A, an enzyme that degrades ganglioside GM2, is absent. A hereditary disease that affects young children almost exclusively of eastern European Jewish descent, in which an enzyme deficiency leads to the accumulation of gangliosides in the brain and nerve tissue, resulting in mental retardation, convulsions, blindness, and, ultimately, death. (BRENDA Tissue and Enzyme Source Ontology, BTO_0001399)
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Genes

4 proteins co-occuring with the tissue tay-sachs disease specific cell type in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

Symbol Name Standardized Value
HEXA hexosaminidase A (alpha polypeptide) 1.9996
HEXB hexosaminidase B (beta polypeptide) 1.72335
ETFA electron-transfer-flavoprotein, alpha polypeptide 1.38963
HEXDC hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing 1.31559