Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		1.000 GeneticVariation CLINVAR Structural consequences of amino acid substitutions causing Tay-Sachs disease. 18490185

2008
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		1.000 CausalMutation CLINVAR Structural consequences of amino acid substitutions causing Tay-Sachs disease. 18490185

2008
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		1.000 CausalMutation CLINVAR Structural basis of the GM2 gangliosidosis B variant. 14577003

2003
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		1.000 GeneticVariation CLINVAR Structural basis of the GM2 gangliosidosis B variant. 14577003

2003
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		1.000 CausalMutation CLINVAR Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group. 3375249

1988
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		1.000 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
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		1.000 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
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		1.000 CausalMutation CLINVAR Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments. 1837283

1991
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		1.000 GeneticVariation CLINVAR Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments. 1837283

1991
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		1.000 CausalMutation CLINVAR Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease. 1833974

1991
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		1.000 GeneticVariation CLINVAR Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease. 1833974

1991
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		1.000 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		1.000 CausalMutation CLINVAR Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. 27959697

2017
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		1.000 GeneticVariation CLINVAR Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. 23035047

2012
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		1.000 CausalMutation CLINVAR Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. 23035047

2012
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		1.000 CausalMutation CLINVAR Rapid identification of HEXA mutations in Tay-Sachs patients. 20100466

2010
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		1.000 GeneticVariation CLINVAR Rapid identification of HEXA mutations in Tay-Sachs patients. 20100466

2010
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		1.000 CausalMutation CLINVAR Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis. 17237499

2007
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		1.000 GeneticVariation CLINVAR Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis. 17237499

2007
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		1.000 GeneticVariation CLINVAR Previous studies among Moroccan Jewish TSD families identified three HEXA mutations. 9338583

1997
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		1.000 CausalMutation CLINVAR Previous studies among Moroccan Jewish TSD families identified three HEXA mutations. 9338583

1997
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		1.000 CausalMutation CLINVAR Prader-Willi syndrome and Tay-Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq. 25287655

2015
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		1.000 CausalMutation CLINVAR Origin and spread of the 1278insTATC mutation causing Tay-Sachs disease in Ashkenazi Jews: genetic drift as a robust and parsimonious hypothesis. 14727180

2004
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		1.000 CausalMutation CLINVAR Novel mutations, including the second most common in Japan, in the beta-hexosaminidase alpha subunit gene, and a simple screening of Japanese patients with Tay-Sachs disease. 10083731

1999
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		1.000 GeneticVariation CLINVAR Novel mutations, including the second most common in Japan, in the beta-hexosaminidase alpha subunit gene, and a simple screening of Japanese patients with Tay-Sachs disease. 10083731

1999