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 Biomarker disease GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 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 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 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 BEFREE 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 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 BEFREE 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 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 CausalMutation 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 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 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 GeneticVariation disease BEFREE We analyzed the complete HEXA gene in 34 Spanish patients with Tay-Sachs disease and the HEXB gene in 14 Spanish patients with Sandhoff disease. 22789865 2012
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 CausalMutation disease CLINVAR A systematic survey of loss-of-function variants in human protein-coding genes. 22344438 2012
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 CausalMutation disease CLINVAR Tay-Sachs disease in an Arab family due to c.78G>A HEXA nonsense mutation encoding a p.W26X early truncation enzyme peptide. 21967858 2011
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		1.000 CausalMutation disease CLINVAR Carrier testing for severe childhood recessive diseases by next-generation sequencing. 21228398 2011