OGA, O-GlcNAcase, 10724

N. diseases: 140; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035126
Disease: Reperfusion Injury
Reperfusion Injury 		0.200 Biomarker disease RGD Glucosamine protects neonatal cardiomyocytes from ischemia-reperfusion injury via increased protein-associated O-GlcNAc. 16899550 2007
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		0.100 GeneticVariation disease BEFREE Tay-Sachs and Sandhoff disease (the main forms of GM2 gangliosidosis) result from mutations in either the HEXA or HEXB genes encoding, respectively, the α- or β-subunits of the lysosomal β-Hexosaminidase enzyme. 31682993 2020
CUI: C0021704
Disease: Intelligence
Intelligence 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence. 29942086 2018
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		0.100 GeneticVariation disease BEFREE Tay-Sachs disease (TSD) is a rare neurodegenerative disorder caused by autosomal recessive mutations in the HEXA gene on chromosome 15 that encodes β-hexosaminidase. 30220252 2018
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		0.100 AlteredExpression disease BEFREE In Sandhoff disease (SD), the activity of the lysosomal hydrolytic enzyme, β-hexosaminidase (Hex), is lost due to a Hexb gene defect, which results in the abnormal accumulation of the substrate, GM2 ganglioside (GM2), in neuronal cells, causing neuronal loss, microglial activation, and astrogliosis. 28575132 2017
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		0.100 GeneticVariation disease BEFREE Sandhoff disease (SD) is caused by the loss of β-hexosaminidase (Hex) enzymatic activity in lysosomes resulting from Hexb mutations. 28084424 2017
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		0.100 GeneticVariation disease BEFREE Sandhoff disease (SD) is a rare autosomal recessive lysosomal storage disorder of sphingolipid metabolism resulting from the deficiency of β-hexosaminidase (HEX). 27021291 2016
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		0.100 AlteredExpression disease BEFREE Children with phenotypic presentation as GM2 gangliosidosis (Tay-Sachs or Sandhoff disease) and normal enzyme activity of β-hexosaminidase-A and -B in leucocytes need to be investigated for GM2 activator protein deficiency. 27402091 2016
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		0.100 GeneticVariation disease BEFREE Sandhoff disease (SD) is a fatal neurodegenerative disease caused by a mutation in the enzyme β-N-acetylhexosaminidase. 25971245 2016
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		0.100 Biomarker disease BEFREE The present study is aimed to determine mutations spectrum and molecular pathology leading to SD in 22 unrelated patients confirmed by the deficiency of β-hexosaminidase-A and total-hexosaminidase in leukocytes. 26582265 2016
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		0.100 GeneticVariation disease BEFREE Loss of function of the enzyme β-hexosaminidase A (HexA) causes the lysosomal storage disorder Tay-Sachs disease (TSD). 27682588 2016
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases 		0.100 GeneticVariation group BEFREE Loss of function of the enzyme β-hexosaminidase A (HexA) causes the lysosomal storage disorder Tay-Sachs disease (TSD). 27682588 2016
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases 		0.100 GeneticVariation group BEFREE Sandhoff disease (SD) is a rare autosomal recessive lysosomal storage disorder of sphingolipid metabolism resulting from the deficiency of β-hexosaminidase (HEX). 27021291 2016
CUI: C0268274
Disease: Gangliosidoses, GM2
Gangliosidoses, GM2 		0.100 AlteredExpression disease BEFREE Children with phenotypic presentation as GM2 gangliosidosis (Tay-Sachs or Sandhoff disease) and normal enzyme activity of β-hexosaminidase-A and -B in leucocytes need to be investigated for GM2 activator protein deficiency. 27402091 2016
CUI: C0268274
Disease: Gangliosidoses, GM2
Gangliosidoses, GM2 		0.100 Biomarker disease BEFREE Protease-resistant modified human β-hexosaminidase B ameliorates symptoms in GM2 gangliosidosis model. 27018595 2016
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases 		0.100 GeneticVariation group BEFREE Late Onset Tay- Sachs disease (LOTS) is a rare neurodegenerative lysosomal storage disease which results from mutations in the gene encoding the α subunit (HEXA) of β-hexosaminidase enzyme (HexA). 25896637 2015
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		0.100 AlteredExpression disease BEFREE We have shown that expression of β-hexosaminidase by intracranial delivery of recombinant adeno-associated viral vectors to young adult SD mice can prevent many features of the disease and extends lifespan. 24057669 2014
CUI: C0268274
Disease: Gangliosidoses, GM2
Gangliosidoses, GM2 		0.100 GeneticVariation disease BEFREE The GM2 gangliosidoses are progressive neurodegenerative disorders due to defects in the lysosomal β-N-acetylhexosaminidase system. 24057669 2014
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		0.100 GeneticVariation disease BEFREE Characterization of the mutant β-subunit of β-hexosaminidase for dimer formation responsible for the adult form of Sandhoff disease with the motor neuron disease phenotype. 23127958 2013
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases 		0.100 GeneticVariation group BEFREE TFEB activation also rescues the activity of a β-hexosaminidase mutant associated with the development of another LSD, Tay-Sachs disease, thus suggesting general applicability of TFEB-mediated proteostasis modulation to rescue destabilizing mutations in LSDs. 23393155 2013
CUI: C0268274
Disease: Gangliosidoses, GM2
Gangliosidoses, GM2 		0.100 GeneticVariation disease BEFREE These results provide additional insight into juvenile-onset G(M2)-gangliosidoses and further expand the number of β-hexosaminidase mutations associated with motor neuron disease. 23158871 2013
CUI: C0268274
Disease: Gangliosidoses, GM2
Gangliosidoses, GM2 		0.100 Biomarker disease BEFREE GM1 and GM2 gangliosidosis are associated with deficiency of β-galactosidase and β-hexosaminidase respectively. 23622392 2013
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		0.100 AlteredExpression disease BEFREE Conditional expression of human β-hexosaminidase in the neurons of Sandhoff disease rescues mice from neurodegeneration but not neuroinflammation. 22863301 2012
CUI: C0268274
Disease: Gangliosidoses, GM2
Gangliosidoses, GM2 		0.100 AlteredExpression disease BEFREE Reversible transgenic expression of β-hexosaminidase directed by two promoters, mouse Hexb and human Synapsin 1 promoters, permitted progression of GM2 gangliosidosis in Sandhoff mice to be modified at pre-defined ages. 23028353 2012
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		0.100 GeneticVariation disease BEFREE To develop a novel enzyme replacement therapy for neurodegenerative Tay-Sachs disease (TSD) and Sandhoff disease (SD), which are caused by deficiency of β-hexosaminidase (Hex) A, we designed a genetically engineered HEXB encoding the chimeric human β-subunit containing partial amino acid sequence of the α-subunit by structure-based homology modeling. 21487393 2011