HEXB, hexosaminidase subunit beta, 3074

N. diseases: 62; N. variants: 49
Disease: Sandhoff Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28942073
rs28942073
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease:
Sandhoff Disease 		T 0.800 CausalMutation CLINVAR Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency. 25736553 2015
dbSNP: rs28942073
rs28942073
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease:
Sandhoff Disease 		T 0.800 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
dbSNP: rs28942073
rs28942073
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease:
Sandhoff Disease 		T 0.800 CausalMutation CLINVAR Adult Sandhoff disease with 2 mutations in the HEXB gene presenting as brachial amyotrophic diplegia. 24263030 2013
dbSNP: rs28942073
rs28942073
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease:
Sandhoff Disease 		T 0.800 CausalMutation CLINVAR GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients. 22789865 2012
dbSNP: rs28942073
rs28942073
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease:
Sandhoff Disease 		T 0.800 CausalMutation CLINVAR A mutation of HEXB gene in Sandhoff disease presenting as motor neuron disease. 21150067 2011
dbSNP: rs28942073
rs28942073
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease:
Sandhoff Disease 		T 0.800 CausalMutation CLINVAR Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis. 17237499 2007
dbSNP: rs28942073
rs28942073
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease:
Sandhoff Disease 		0.800 GeneticVariation UNIPROT A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease. 9694901 1998
dbSNP: rs28942073
rs28942073
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease:
Sandhoff Disease 		0.800 GeneticVariation UNIPROT Two mutations remote from an exon/intron junction in the beta-hexosaminidase beta-subunit gene affect 3'-splice site selection and cause Sandhoff disease. 9856491 1998
dbSNP: rs28942073
rs28942073
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease:
Sandhoff Disease 		0.800 GeneticVariation UNIPROT Molecular basis of heat labile hexosaminidase B among Jews and Arabs. 9401004 1997
dbSNP: rs28942073
rs28942073
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease:
Sandhoff Disease 		0.800 GeneticVariation UNIPROT Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype. 8950198 1996
dbSNP: rs28942073
rs28942073
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease:
Sandhoff Disease 		0.800 GeneticVariation UNIPROT A second, large deletion in the HEXB gene in a patient with infantile Sandhoff disease. 7633435 1995
dbSNP: rs28942073
rs28942073
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease:
Sandhoff Disease 		0.800 GeneticVariation UNIPROT A common beta hexosaminidase gene mutation in adult Sandhoff disease patients. 7557963 1995
dbSNP: rs28942073
rs28942073
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease:
Sandhoff Disease 		T 0.800 CausalMutation CLINVAR A common beta hexosaminidase gene mutation in adult Sandhoff disease patients. 7557963 1995
dbSNP: rs28942073
rs28942073
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease:
Sandhoff Disease 		0.800 GeneticVariation UNIPROT A novel missense mutation (C522Y) is present in the beta-hexosaminidase beta-subunit gene of a Japanese patient with infantile Sandhoff disease. 7626071 1995
dbSNP: rs28942073
rs28942073
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease:
Sandhoff Disease 		0.800 GeneticVariation UNIPROT Molecular basis of an adult form of Sandhoff disease: substitution of glutamine for arginine at position 505 of the beta-chain of beta-hexosaminidase results in a labile enzyme. 8357844 1993
dbSNP: rs28942073
rs28942073
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease:
Sandhoff Disease 		0.800 GeneticVariation UNIPROT A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selection. 1531140 1992
dbSNP: rs28942073
rs28942073
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease:
Sandhoff Disease 		T 0.800 CausalMutation CLINVAR A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selection. 1531140 1992
dbSNP: rs28942073
rs28942073
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease:
Sandhoff Disease 		T 0.800 CausalMutation CLINVAR An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds. 1386607 1992
dbSNP: rs28942073
rs28942073
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease:
Sandhoff Disease 		0.800 GeneticVariation UNIPROT Molecular basis of an adult form of beta-hexosaminidase B deficiency with motor neuron disease. 1720305 1991