Source: CLINVAR ×
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 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 		1.000 GeneticVariation disease CLINVAR Late-onset Tay-Sachs disease. 28739864 2017
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 CausalMutation disease CLINVAR Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. 27959697 2017
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 CausalMutation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 CausalMutation disease CLINVAR Cerebellar atrophy and muscle weakness: late-onset Tay-Sachs disease outside Jewish populations. 27033294 2016
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease CLINVAR Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses. 25557439 2015
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease CLINVAR Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease. 27896118 2014
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 GeneticVariation disease CLINVAR Three novel mutations in Iranian patients with Tay-Sachs disease. 24518553 2014
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease 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 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease CLINVAR Molecular study of lysosomal storage disorders in India. 24940364 2014
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease CLINVAR Three novel mutations in Iranian patients with Tay-Sachs disease. 24518553 2014
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease 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 		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 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 		1.000 GeneticVariation disease CLINVAR Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. 23035047 2012
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 CausalMutation disease CLINVAR Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. 23035047 2012
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 GeneticVariation 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