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 CausalMutation CLINVAR Temporary Efficacy of Pyrimethamine in Juvenile-Onset Tay-Sachs Disease Caused by 2 Unreported HEXA Mutations in the Indian Population. 28503624

2019
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		1.000 GeneticVariation CLINVAR Late-onset Tay-Sachs disease. 28739864

2017
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 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		1.000 CausalMutation CLINVAR 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 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 Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses. 25557439

2015
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 The first family with Tay-Sachs disease in Cyprus: Genetic analysis reveals a nonsense (c.78G>A) and a silent (c.1305C>T) mutation and allows preimplantation genetic diagnosis. 25606403

2014
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		1.000 CausalMutation CLINVAR Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease. 27896118

2014
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		1.000 GeneticVariation CLINVAR Three novel mutations in Iranian patients with Tay-Sachs disease. 24518553

2014
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		1.000 GeneticVariation CLINVAR Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders. 24767253

2014
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		1.000 GeneticVariation CLINVAR Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility. 23852624

2014
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		1.000 CausalMutation CLINVAR Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility. 23852624

2014
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		1.000 CausalMutation CLINVAR Validation for clinical use of, and initial clinical experience with, a novel approach to population-based carrier screening using high-throughput, next-generation DNA sequencing. 24374108

2014
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		1.000 CausalMutation CLINVAR Molecular study of lysosomal storage disorders in India. 24940364

2014
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		1.000 CausalMutation CLINVAR Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders. 24767253

2014
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		1.000 CausalMutation CLINVAR Three novel mutations in Iranian patients with Tay-Sachs disease. 24518553

2014
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		1.000 CausalMutation CLINVAR An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. 22975760

2013
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		1.000 CausalMutation CLINVAR Next-generation DNA sequencing of HEXA: a step in the right direction for carrier screening. 24498621

2013
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		1.000 CausalMutation 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
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		1.000 GeneticVariation CLINVAR GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients. 22789865

2012
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 GeneticVariation 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