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: rs121907986
rs121907986
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease:
Sandhoff Disease 		T 0.710 CausalMutation CLINVAR Genotype, phenotype and in silico pathogenicity analysis of HEXB mutations: Panel based sequencing for differential diagnosis of gangliosidosis. 29448188 2018
dbSNP: rs121907986
rs121907986
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease:
Sandhoff Disease 		T 0.710 CausalMutation CLINVAR Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease. 26582265 2016
dbSNP: rs121907986
rs121907986
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease:
Sandhoff Disease 		0.710 GeneticVariation BEFREE Homozygous p.R284* mutation in HEXB gene causing Sandhoff disease with nystagmus. 24613245 2014
dbSNP: rs121907986
rs121907986
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease:
Sandhoff Disease 		T 0.710 CausalMutation CLINVAR Homozygous p.R284* mutation in HEXB gene causing Sandhoff disease with nystagmus. 24613245 2014
dbSNP: rs121907986
rs121907986
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease:
Sandhoff Disease 		T 0.710 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
dbSNP: rs121907986
rs121907986
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease:
Sandhoff Disease 		T 0.710 CausalMutation CLINVAR Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients. 23046579 2013
dbSNP: rs121907986
rs121907986
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease:
Sandhoff Disease 		T 0.710 CausalMutation CLINVAR New and known mutations associated with inborn errors of metabolism in a heterogeneous Middle Eastern population. 21483992 2011
dbSNP: rs121907986
rs121907986
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease:
Sandhoff Disease 		T 0.710 CausalMutation CLINVAR Occurrence of an anomalous endocytic compartment in fibroblasts from Sandhoff disease patients. 19823769 2010
dbSNP: rs121907986
rs121907986
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease:
Sandhoff Disease 		T 0.710 CausalMutation CLINVAR Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles. 18758829 2009
dbSNP: rs121907986
rs121907986
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease:
Sandhoff Disease 		T 0.710 CausalMutation CLINVAR Impact of premature stop codons on mRNA levels in infantile Sandhoff disease. 8162015 1994