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 CausalMutation disease CLINVAR Homozygosity for the common Ashkenazi jewish Tay-Sachs +1 IVS-12 splice-junction mutation: first report. 9222766 1997
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 GeneticVariation disease BEFREE We have now identified two additional mutations within exon 5 of the HEXA gene that account for the remaining TSD alleles in the patient and carriers. 1322637 1992
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 GeneticVariation disease BEFREE Pathogenic variants in HEXA that impair β-hexosaminidase A (Hex A) enzyme activity cause Tay-Sachs Disease (TSD), a severe autosomal-recessive neurodegenerative disorder. 31293106 2019
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 Biomarker disease BEFREE Generation of HEXA-deficient hiPSCs from fibroblasts of a Tay-Sachs disease patient. 27879213 2016
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 CausalMutation disease CLINVAR Molecular analysis of HEXA gene in Argentinean patients affected with Tay-Sachs disease: possible common origin of the prevalent c.459+5A>G mutation. 22441121 2012
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 GeneticVariation disease BEFREE In the last decade, the cloning of the HEXA gene and the identification of more than 80 associated TSD-causing mutations has permitted molecular diagnosis in many instances. 10464605 1998
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 GeneticVariation disease BEFREE We analyzed the HEXA gene of one pseudodeficient subject and identified both a C739-to-T substitution that changes Arg247----Trp on one allele and a previously identified Tay-Sachs disease mutation on the second allele. 1384323 1992
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 GeneticVariation disease CLINVAR Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients. 8490625 1993
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 GeneticVariation disease BEFREE In particular, the mutations in the human HEXA gene that cause the infantile Tay-Sachs disease have been studied using MALDI-MS to demonstrate the feasibility of this technique for use in clinical and diagnostic analysis. 9218358 1997
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 GeneticVariation disease CLINVAR Structural consequences of amino acid substitutions causing Tay-Sachs disease. 18490185 2008
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 Biomarker disease CTD_human 31Phosphorus magnetic resonance spectroscopy in late-onset Tay-Sachs disease. 11392526 2001
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 CLINVAR We describe three HEXA mutations associated with infantile Tay-Sachs disease (TSD) in three unrelated nonconsanguineous Chinese families. 1301190 1992
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 GeneticVariation disease BEFREE Tay-Sachs disease (TSD) is a recessively inherited neurodegenerative disorder due to mutations in the HEXA gene resulting in a beta-hexosaminidase A (Hex A) deficiency. 20100466 2010
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 CausalMutation disease CLINVAR Beta-hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British Isles. 1387685 1992
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 GeneticVariation disease CLINVAR Biochemical consequences of mutations causing the GM2 gangliosidoses. 10571007 1999
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 GeneticVariation disease 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
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 CausalMutation disease CLINVAR A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation. 1302612 1992
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 GeneticVariation disease UNIPROT We aimed to determine mutations leading to TSD in India by complete sequencing of the HEXA gene. 22723944 2012
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 CausalMutation disease 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 		1.000 GeneticVariation disease CLINVAR Eight novel mutations in the HEXA gene. 12180151 2003
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 Biomarker disease GENOMICS_ENGLAND Late onset Tay-Sachs disease in mice with targeted disruption of the Hexa gene: behavioral changes and pathology of the central nervous system. 14972652 2004
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 GeneticVariation disease UNIPROT Tay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradation. 27682588 2016
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 CausalMutation disease CLINVAR Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses. 25557439 2015