Source: CURATED

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 Biomarker 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
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		1.000 Biomarker 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
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		1.000 GeneticVariation 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
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		1.000 Biomarker GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685

2014
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		1.000 GeneticVariation 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
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		1.000 Biomarker GENOMICS_ENGLAND Cerebellar atrophy and muscle weakness: late-onset Tay-Sachs disease outside Jewish populations. 27033294

2016
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		1.000 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016