Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		1.000 CausalMutation CLINVAR Genotype, phenotype and in silico pathogenicity analysis of HEXB mutations: Panel based sequencing for differential diagnosis of gangliosidosis. 29448188

2018
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		1.000 GeneticVariation CLINVAR Clinical,biochemical and molecular analysis of five Chinese patients with Sandhoff disease. 27021291

2016
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		1.000 GeneticVariation CLINVAR Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity. 27682710

2016
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		1.000 CausalMutation CLINVAR Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease. 26582265

2016
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		1.000 GeneticVariation CLINVAR Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease. 26582265

2016
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		1.000 CausalMutation CLINVAR Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency. 25736553

2015
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		1.000 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		1.000 CausalMutation CLINVAR Homozygous p.R284* mutation in HEXB gene causing Sandhoff disease with nystagmus. 24613245

2014
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		1.000 GeneticVariation CLINVAR Chaperone therapy for GM2 gangliosidosis: effects of pyrimethamine on β-hexosaminidase activity in Sandhoff fibroblasts. 24356898

2014
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		1.000 GeneticVariation CLINVAR Integrated multiplex ligation dependent probe amplification (MLPA) assays for the detection of alterations in the HEXB, GM2A and SMARCAL1 genes to support the diagnosis of Morbus Sandhoff, M. Tay-Sachs variant AB and Schimke immuno-osseous dysplasia in humans. 23010210

2013
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		1.000 CausalMutation CLINVAR Characterization of the mutant β-subunit of β-hexosaminidase for dimer formation responsible for the adult form of Sandhoff disease with the motor neuron disease phenotype. 23127958

2013
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		1.000 CausalMutation CLINVAR Adult Sandhoff disease with 2 mutations in the HEXB gene presenting as brachial amyotrophic diplegia. 24263030

2013
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		1.000 GeneticVariation CLINVAR Molecular pathology of Sandhoff disease with p.Arg505Gln in HEXB: application of simulation analysis. 23759947

2013
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		1.000 GeneticVariation CLINVAR Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients. 23046579

2013
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		1.000 CausalMutation CLINVAR Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients. 23046579

2013
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		1.000 CausalMutation CLINVAR Integrated multiplex ligation dependent probe amplification (MLPA) assays for the detection of alterations in the HEXB, GM2A and SMARCAL1 genes to support the diagnosis of Morbus Sandhoff, M. Tay-Sachs variant AB and Schimke immuno-osseous dysplasia in humans. 23010210

2013
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		1.000 CausalMutation CLINVAR GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients. 22789865

2012
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		1.000 GeneticVariation CLINVAR Novel Mutations in Sandhoff Disease: A Molecular Analysis among Iranian Cohort of Infantile Patients. 23113155

2012
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		1.000 CausalMutation CLINVAR Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants. 22848519

2012
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		1.000 GeneticVariation CLINVAR Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants. 22848519

2012
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		1.000 CausalMutation CLINVAR Novel Mutations in Sandhoff Disease: A Molecular Analysis among Iranian Cohort of Infantile Patients. 23113155

2012
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff 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: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		1.000 CausalMutation CLINVAR A mutation of HEXB gene in Sandhoff disease presenting as motor neuron disease. 21150067

2011
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		1.000 GeneticVariation CLINVAR An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay-Sachs or Sandhoff variants). 20926324

2011
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		1.000 CausalMutation CLINVAR GM2 gangliosidosis in Saudi Arabia: multiple mutations and considerations for future carrier screening. 21567908

2011