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 Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population. 21796138 2011
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 CausalMutation disease CLINVAR GM2 gangliosidosis in Saudi Arabia: multiple mutations and considerations for future carrier screening. 21567908 2011
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 GeneticVariation disease CLINVAR GM2 gangliosidosis in Saudi Arabia: multiple mutations and considerations for future carrier screening. 21567908 2011
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 GeneticVariation disease CLINVAR "Tay-Sach disease with ""cherry-red spot""--first reported case in Malaysia." 22390110 2011
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 GeneticVariation disease BEFREE We performed a HEXA gene sequencing assay, a HEXA DNA common mutation assay, and a HEXA enzyme assay on 34 self-reported Tay-Sachs disease (TSD) carriers, six late-onset patients with TSD, and one pseudodeficiency allele carrier. 19858779 2010
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 CausalMutation disease 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
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 GeneticVariation disease BEFREE We have identified three mutations in the beta-hexoseaminidase A (HEXA) gene in a juvenile Tay-Sachs disease (TSD) patient, which exhibited a reduced level of HEXA mRNA. 20363167 2010
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 GeneticVariation disease 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
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 CausalMutation disease CLINVAR Rapid identification of HEXA mutations in Tay-Sachs patients. 20100466 2010
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 GeneticVariation disease CLINVAR Rapid identification of HEXA mutations in Tay-Sachs patients. 20100466 2010
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 CausalMutation disease CLINVAR Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases. 20672374 2010
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 CausalMutation disease CLINVAR Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis. 19858779 2010
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 CausalMutation disease CLINVAR Late-onset Tay-Sachs disease presenting as a childhood stutter. 19091716 2009
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 GeneticVariation disease CLINVAR Late-onset Tay-Sachs disease presenting as a childhood stutter. 19091716 2009
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 GeneticVariation disease LHGDN Rapid detection of fetal Mendelian disorders: Tay-Sachs disease. 18425478 2008
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 GeneticVariation disease BEFREE In the present study, we report an animal model (American flamingo; Phoenicopterus ruber) of TSD with Hex A deficiency occurring spontaneously in nature, with accumulation of G(M2)-ganglioside, deficiency of Hex A enzymatic activity, and a homozygous P469L mutation in exon 12 of the hexa gene. 18693054 2008
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 Biomarker disease GENOMICS_ENGLAND Late-onset Tay-Sachs disease: the spectrum of peripheral neuropathy in 30 affected patients. 18642377 2008
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 CausalMutation disease CLINVAR Juvenile-onset G(M2)-gangliosidosis in an African-American child with nystagmus. 18358410 2008
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 CausalMutation disease CLINVAR Structural consequences of amino acid substitutions causing Tay-Sachs disease. 18490185 2008
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 CausalMutation disease CLINVAR Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis. 17237499 2007
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 GeneticVariation disease CLINVAR Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis. 17237499 2007
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 CausalMutation disease CLINVAR The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported. 17015493 2006
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 CausalMutation disease CLINVAR Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification. 16352452 2006