Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2760
Gene Symbol: GM2A
GM2A 		0.920 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 2760
Gene Symbol: GM2A
GM2A 		0.920 Biomarker disease GENOMICS_ENGLAND Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome. 26203402 2015
Entrez Id: 2760
Gene Symbol: GM2A
GM2A 		0.920 Biomarker disease GENOMICS_ENGLAND Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. 25529582 2015
Entrez Id: 2760
Gene Symbol: GM2A
GM2A 		0.920 GeneticVariation disease BEFREE The genes responsible for these disorders are HEXA (Tay-Sachs disease and variants), HEXB (Sandhoff disease and variants), and GM2A (AB variant of GM2 gangliosidosis). 11339652 2001
Entrez Id: 2760
Gene Symbol: GM2A
GM2A 		0.920 Biomarker disease BEFREE Deficiency of the GM2 activator protein, encoded by GM2A, results in the rare AB-variant form of GM2 gangliosidosis. 10364519 1999
Entrez Id: 2760
Gene Symbol: GM2A
GM2A 		0.920 Biomarker disease MGD The GM2 activator deficiency is caused by mutations in the GM2A gene encoding the GM2 activator protein. 9223328 1997
Entrez Id: 2760
Gene Symbol: GM2A
GM2A 		0.920 GermlineCausalMutation disease ORPHANET Molecular analysis of a GM2-activator deficiency in two patients with GM2-gangliosidosis AB variant. 8900233 1996
Entrez Id: 2760
Gene Symbol: GM2A
GM2A 		0.920 GeneticVariation disease UNIPROT Molecular analysis of a GM2-activator deficiency in two patients with GM2-gangliosidosis AB variant. 8900233 1996
Entrez Id: 2760
Gene Symbol: GM2A
GM2A 		0.920 GeneticVariation disease UNIPROT Molecular genetics of GM2-gangliosidosis AB variant: a novel mutation and expression in BHK cells. 8244332 1993
Entrez Id: 2760
Gene Symbol: GM2A
GM2A 		0.920 Biomarker disease GENOMICS_ENGLAND A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB. 1915858 1991
Entrez Id: 2760
Gene Symbol: GM2A
GM2A 		0.920 GeneticVariation disease UNIPROT A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB. 1915858 1991
Entrez Id: 2760
Gene Symbol: GM2A
GM2A 		0.920 GeneticVariation disease CLINVAR
Entrez Id: 2760
Gene Symbol: GM2A
GM2A 		0.920 CausalMutation disease CLINVAR
Entrez Id: 2760
Gene Symbol: GM2A
GM2A 		0.920 Biomarker disease CTD_human
Entrez Id: 2761
Gene Symbol: GM2AP1
GM2AP1 		0.010 GeneticVariation disease BEFREE G<sub>M2</sub>-gangliosidosis, AB variant is an extremely rare autosomal recessive inherited disorder caused by mutations in the <i>GM2A</i> gene that encodes G<sub>M2</sub> ganglioside activator protein (GM2AP). 28417072 2017
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		0.010 GeneticVariation disease BEFREE The genes responsible for these disorders are HEXA (Tay-Sachs disease and variants), HEXB (Sandhoff disease and variants), and GM2A (AB variant of GM2 gangliosidosis). 11339652 2001
Entrez Id: 3074
Gene Symbol: HEXB
HEXB 		0.010 GeneticVariation disease BEFREE The genes responsible for these disorders are HEXA (Tay-Sachs disease and variants), HEXB (Sandhoff disease and variants), and GM2A (AB variant of GM2 gangliosidosis). 11339652 2001
Entrez Id: 10724
Gene Symbol: OGA
OGA 		0.010 GeneticVariation disease BEFREE The GM2 gangliosidoses are caused by mutations in the genes encoding the alpha- (Tay-Sachs) or beta- (Sandhoff) subunits of heterodimeric beta-hexosaminidase A (Hex A), or the GM2 activator protein (AB variant), a substrate-specific co-factor for Hex A. 9694901 1998