Gene: HEXA ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121907954
rs121907954
HEXA
0.830 GeneticVariation UNIPROT Tay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradation. 27682588

2016
dbSNP: rs121907954
rs121907954
HEXA
0.830 GeneticVariation UNIPROT Three novel beta-hexosaminidase A mutations in obligate carriers of Tay-Sachs disease. 7951261

1994
dbSNP: rs121907954
rs121907954
HEXA
0.830 GeneticVariation UNIPROT Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease. 9150157

1997
dbSNP: rs121907954
rs121907954
HEXA
0.830 GeneticVariation UNIPROT Tay-Sachs disease and HEXA mutations among Moroccan Jews. 9338583

1997
dbSNP: rs121907954
rs121907954
HEXA
0.830 GeneticVariation BEFREE Molecular analysis of the Hex A gene (HEXA) of Ashkenazi Jewish individuals affected with Tay-Sachs disease revealed that three common mutations cause the infantile and adult onset forms of the disease; a four base insertion in exon 11, a splice junction mutation in intron 12 and a point mutation in exon 7 (G269S). 8343225

1993
dbSNP: rs121907954
rs121907954
HEXA
0.830 GeneticVariation UNIPROT Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease. 9401008

1997
dbSNP: rs121907954
rs121907954
HEXA
0.830 GeneticVariation UNIPROT Novel Tay-Sachs disease mutations from China. 1301190

1992
dbSNP: rs121907954
rs121907954
HEXA
0.830 GeneticVariation UNIPROT A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation. 1302612

1992
dbSNP: rs121907954
rs121907954
HEXA
0.830 GeneticVariation UNIPROT Molecular genetics of Tay-Sachs disease in Japan. 7837766

1994
dbSNP: rs121907954
rs121907954
HEXA
0.830 GeneticVariation UNIPROT Carrier screening in individuals of Ashkenazi Jewish descent. 18197057

2008
dbSNP: rs121907954
rs121907954
HEXA
0.830 GeneticVariation UNIPROT Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene. 8445615

1993
dbSNP: rs121907954
rs121907954
HEXA
0.830 GeneticVariation UNIPROT Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments. 1837283

1991
dbSNP: rs121907954
rs121907954
HEXA
0.830 GeneticVariation UNIPROT W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis. 9603435

1998
dbSNP: rs121907954
rs121907954
HEXA
0.830 GeneticVariation UNIPROT Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene. 8757036

1996
dbSNP: rs121907954
rs121907954
HEXA
0.830 GeneticVariation BEFREE Over 72 mutations have been identified in the HEXA gene of which only four (T538C, A590C, G805A, and C1495T) are believed to cause a chronic form of Tay-Sachs disease (TSD). 9272736

1997
dbSNP: rs121907954
rs121907954
HEXA
0.830 GeneticVariation UNIPROT The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease. 2522679

1989
dbSNP: rs121907954
rs121907954
HEXA
0.830 GeneticVariation UNIPROT Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients. 8490625

1993
dbSNP: rs121907954
rs121907954
HEXA
0.830 GeneticVariation BEFREE The intron 7 + 1 mutation occurs in the base adjacent to the site of the adult-onset TSD mutation (G805A). 1483696

1992
dbSNP: rs121907954
rs121907954
HEXA
0.830 GeneticVariation UNIPROT Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India. 22723944

2012
dbSNP: rs121907954
rs121907954
HEXA
0.830 GeneticVariation UNIPROT GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A. 8581357

1995
dbSNP: rs121907954
rs121907954
HEXA
0.830 GeneticVariation UNIPROT A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family. 1301189

1992
dbSNP: rs121907954
rs121907954
HEXA
0.830 GeneticVariation UNIPROT A point mutation in the coding sequence of the beta-hexosaminidase alpha gene results in defective processing of the enzyme protein in an unusual GM2-gangliosidosis variant. 2970528

1988
dbSNP: rs121907954
rs121907954
HEXA
0.830 GeneticVariation UNIPROT 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: rs121907954
rs121907954
HEXA
0.830 GeneticVariation UNIPROT ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 19888064

2009
dbSNP: rs121907954
rs121907954
HEXA
0.830 GeneticVariation UNIPROT Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England. 7717398

1995