HEXD, hexosaminidase D, 284004

N. diseases: 12; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		0.020 GeneticVariation disease BEFREE Sandhoff disease (SD) is a fatal neurodegenerative disease caused by a mutation in the enzyme β-N-acetylhexosaminidase. 25971245 2016
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.020 GeneticVariation group BEFREE Sandhoff disease (SD) is a fatal neurodegenerative disease caused by a mutation in the enzyme β-N-acetylhexosaminidase. 25971245 2016
CUI: C0268274
Disease: Gangliosidoses, GM2
Gangliosidoses, GM2 		0.020 GeneticVariation disease BEFREE The GM2 gangliosidoses are progressive neurodegenerative disorders due to defects in the lysosomal β-N-acetylhexosaminidase system. 24057669 2014
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.020 GeneticVariation group 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 		0.020 Biomarker disease BEFREE Design, synthesis, and biological evaluation of enantiomeric beta-N-acetylhexosaminidase inhibitors LABNAc and DABNAc as potential agents against Tay-Sachs and Sandhoff disease. 19145603 2009
CUI: C0268274
Disease: Gangliosidoses, GM2
Gangliosidoses, GM2 		0.020 Biomarker disease BEFREE TS disease is a GM2 gangliosidosis attributed to the deficiency of the lysosomal enzyme beta-hexosaminidase A (HexA) (beta-N-acetylhexosaminidase, EC ). 11923278 2002
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		0.020 AlteredExpression disease BEFREE Tay-Sachs disease is an inherited disorder in which the alpha chain of the lysosomal enzyme beta-N-acetylhexosaminidase A bears the mutation. 3375249 1988
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		0.020 AlteredExpression disease BEFREE We hypothesize that in TSD cells a form of the beta subunit which is usually incorporated into Hex A accumulates due to the absence of alpha subunits. 6226462 1983
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		0.010 Biomarker disease BEFREE Most monkeys receiving AAVrh8-cmHexα/β developed dyskinesias, ataxia, and loss of dexterity, with higher dose animals eventually becoming apathetic. 28132521 2017
CUI: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome 		0.010 Biomarker disease BEFREE TS disease is a GM2 gangliosidosis attributed to the deficiency of the lysosomal enzyme beta-hexosaminidase A (HexA) (beta-N-acetylhexosaminidase, EC ). 11923278 2002
CUI: C0040963
Disease: Tricuspid Valve Stenosis
Tricuspid Valve Stenosis 		0.010 Biomarker disease BEFREE TS disease is a GM2 gangliosidosis attributed to the deficiency of the lysosomal enzyme beta-hexosaminidase A (HexA) (beta-N-acetylhexosaminidase, EC ). 11923278 2002
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.010 Biomarker disease BEFREE TS disease is a GM2 gangliosidosis attributed to the deficiency of the lysosomal enzyme beta-hexosaminidase A (HexA) (beta-N-acetylhexosaminidase, EC ). 11923278 2002
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		0.010 Biomarker disease BEFREE TS disease is a GM2 gangliosidosis attributed to the deficiency of the lysosomal enzyme beta-hexosaminidase A (HexA) (beta-N-acetylhexosaminidase, EC ). 11923278 2002
CUI: C2749283
Disease: Gm2-Gangliosidosis, Variant B1
Gm2-Gangliosidosis, Variant B1 		0.010 Biomarker disease BEFREE Thermodynamic characterisation of the mutated isoenzyme A of beta-N-acetylhexosaminidase in GM2-gangliosidosis B1 variant. 10481922 1999