Gene: HEXA ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121907954
rs121907954
HEXA
G 0.830 CausalMutation CLINVAR Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease. 27896118

2014
dbSNP: rs121907954
rs121907954
HEXA
T 0.830 CausalMutation CLINVAR Two novel exonic point mutations in HEXA identified in a juvenile Tay-Sachs patient: role of alternative splicing and nonsense-mediated mRNA decay. 20363167

2010
dbSNP: rs121907954
rs121907954
HEXA
T 0.830 CausalMutation CLINVAR Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients. 15714079

2005
dbSNP: rs121907954
rs121907954
HEXA
T 0.830 CausalMutation CLINVAR beta-Hexosaminidase isozymes from cells cotransfected with alpha and beta cDNA constructs: analysis of the alpha-subunit missense mutation associated with the adult form of Tay-Sachs disease. 8328462

1993
dbSNP: rs121907954
rs121907954
HEXA
T 0.830 CausalMutation CLINVAR Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program. 2220809

1990
dbSNP: rs121907954
rs121907954
HEXA
T 0.830 CausalMutation CLINVAR The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease. 2522679

1989
dbSNP: rs28941770
rs28941770
HEXA
T 0.820 CausalMutation CLINVAR GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients. 22789865

2012
dbSNP: rs28941770
rs28941770
HEXA
T 0.820 CausalMutation CLINVAR Structural consequences of amino acid substitutions causing Tay-Sachs disease. 18490185

2008
dbSNP: rs28941770
rs28941770
HEXA
T 0.820 CausalMutation CLINVAR As previously reported, the c.533G>A (p.R178H) mutation was present either in homozygosity or as compound heterozygote, in all the patients with the late onset TSD form (B1 Variant); the allele frequency in this group is discussed by comparison with that found in infantile TSD. 16088929

2005
dbSNP: rs28941770
rs28941770
HEXA
T 0.820 CausalMutation CLINVAR Active arginine residues in beta-hexosaminidase. Identification through studies of the B1 variant of Tay-Sachs disease. 1831451

1991
dbSNP: rs28941770
rs28941770
HEXA
T 0.820 CausalMutation CLINVAR GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene mutations in 11 patients from a defined region in Portugal. 1832817

1991
dbSNP: rs28941770
rs28941770
HEXA
T 0.820 CausalMutation CLINVAR Mutation in GM2-gangliosidosis B1 variant. 2961848

1988
dbSNP: rs28941770
rs28941770
HEXA
A 0.820 CausalMutation CLINVAR

dbSNP: rs121907966
rs121907966
HEXA
A 0.810 GeneticVariation CLINVAR GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients. 22789865

2012
dbSNP: rs121907966
rs121907966
HEXA
A 0.810 CausalMutation CLINVAR GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients. 22789865

2012
dbSNP: rs121907966
rs121907966
HEXA
A 0.810 GeneticVariation CLINVAR Structural consequences of amino acid substitutions causing Tay-Sachs disease. 18490185

2008
dbSNP: rs121907966
rs121907966
HEXA
A 0.810 CausalMutation CLINVAR Structural consequences of amino acid substitutions causing Tay-Sachs disease. 18490185

2008
dbSNP: rs121907966
rs121907966
HEXA
A 0.810 GeneticVariation CLINVAR Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis. 17237499

2007
dbSNP: rs121907966
rs121907966
HEXA
A 0.810 GeneticVariation CLINVAR The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported. 17015493

2006
dbSNP: rs121907966
rs121907966
HEXA
A 0.810 CausalMutation CLINVAR Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles. 16088929

2005
dbSNP: rs121907966
rs121907966
HEXA
A 0.810 GeneticVariation CLINVAR Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles. 16088929

2005
dbSNP: rs121907966
rs121907966
HEXA
A 0.810 GeneticVariation CLINVAR Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form. 14566483

2003
dbSNP: rs121907966
rs121907966
HEXA
A 0.810 GeneticVariation CLINVAR Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients. 8490625

1993
dbSNP: rs121907966
rs121907966
HEXA
A 0.810 GeneticVariation CLINVAR Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals. 1532289

1992
dbSNP: rs121907966
rs121907966
HEXA
A 0.810 CausalMutation CLINVAR Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals. 1532289

1992