Gene: HEXA ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 GeneticVariation disease CLINVAR Synthesis of beta-hexosaminidase in cell-free translation and in intact fibroblasts: an insoluble precursor alpha chain in a rare form of Tay-Sachs disease. 6959123 1982
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 GeneticVariation disease CLINVAR Faulty association of alpha- and beta-subunits in some forms of beta-hexosaminidase A deficiency. 6236221 1984
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 GeneticVariation disease CLINVAR Can ACG serve as an initiation codon for protein synthesis in eucaryotic cells? 3837850 1985
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 GeneticVariation disease CLINVAR GM2-ganglioside metabolism in hexosaminidase A deficiency states: determination in situ using labeled GM2 added to fibroblast cultures. 2934978 1985
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 CausalMutation disease CLINVAR Multiple abnormal beta-hexosaminidase alpha chain mRNAs in a compound-heterozygous Ashkenazi Jewish patient with Tay-Sachs disease. 2973464 1988
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 CausalMutation disease CLINVAR A splicing defect due to an exon-intron junctional mutation results in abnormal beta-hexosaminidase alpha chain mRNAs in Ashkenazi Jewish patients with Tay-Sachs disease. 2837213 1988
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 CausalMutation disease CLINVAR The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase. 2848800 1988
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 GeneticVariation disease CLINVAR 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
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 CausalMutation disease CLINVAR Identification of an altered splice site in Ashkenazi Tay-Sachs disease. 3362213 1988
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 CausalMutation disease CLINVAR Mutation in GM2-gangliosidosis B1 variant. 2961848 1988
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 CausalMutation disease 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 		1.000 GeneticVariation disease 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
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 CausalMutation disease CLINVAR The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease. 2522679 1989
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 GeneticVariation disease UNIPROT The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease. 2522679 1989
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 GeneticVariation disease UNIPROT A new point mutation in the beta-hexosaminidase alpha subunit gene responsible for infantile Tay-Sachs disease in a non-Jewish Caucasian patient (a Kpn mutant). 2144098 1990
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 CausalMutation disease CLINVAR A new point mutation within exon 5 of beta-hexosaminidase alpha gene in a Japanese infant with Tay-Sachs disease. 2141777 1990
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 CausalMutation disease CLINVAR Juvenile GM2 gangliosidosis caused by substitution of histidine for arginine at position 499 or 504 of the alpha-subunit of beta-hexosaminidase. 2140574 1990
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 GeneticVariation disease CLINVAR Juvenile GM2 gangliosidosis caused by substitution of histidine for arginine at position 499 or 504 of the alpha-subunit of beta-hexosaminidase. 2140574 1990
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 CausalMutation disease CLINVAR Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program. 2220809 1990
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 GeneticVariation disease UNIPROT Juvenile GM2 gangliosidosis caused by substitution of histidine for arginine at position 499 or 504 of the alpha-subunit of beta-hexosaminidase. 2140574 1990
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 GeneticVariation disease CLINVAR A new point mutation within exon 5 of beta-hexosaminidase alpha gene in a Japanese infant with Tay-Sachs disease. 2141777 1990
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 GeneticVariation disease BEFREE The rapid identification of mutations causing Tay-Sachs disease requires the capacity to readily screen the regions of the HEXA gene most likely to be affected by mutation. 1833974 1991
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 GeneticVariation disease CLINVAR Tay-Sachs disease in Moroccan Jews: deletion of a phenylalanine in the alpha-subunit of beta-hexosaminidase. 1825014 1991
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 CausalMutation disease CLINVAR Active arginine residues in beta-hexosaminidase. Identification through studies of the B1 variant of Tay-Sachs disease. 1831451 1991
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 CausalMutation disease CLINVAR Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments. 1837283 1991