Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3074
Gene Symbol: HEXB
HEXB 		1.000 Biomarker disease CTD_human
Entrez Id: 10724
Gene Symbol: OGA
OGA 		0.100 AlteredExpression disease BEFREE Characterization of Hex S, the major residual beta hexosaminidase activity in type O Gm2 gangliosidosis (Sandhoff-Jatzkewitz disease). 240271 1975
Entrez Id: 3074
Gene Symbol: HEXB
HEXB 		1.000 CausalMutation disease CLINVAR An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds. 1386607 1992
Entrez Id: 3074
Gene Symbol: HEXB
HEXB 		1.000 GeneticVariation disease BEFREE Characterization of two HEXB gene mutations in Argentinean patients with Sandhoff disease. 1390948 1992
Entrez Id: 3074
Gene Symbol: HEXB
HEXB 		1.000 CausalMutation disease CLINVAR A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selection. 1531140 1992
Entrez Id: 3074
Gene Symbol: HEXB
HEXB 		1.000 Biomarker disease GENOMICS_ENGLAND A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selection. 1531140 1992
Entrez Id: 3074
Gene Symbol: HEXB
HEXB 		1.000 GeneticVariation disease UNIPROT A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selection. 1531140 1992
Entrez Id: 3074
Gene Symbol: HEXB
HEXB 		1.000 GeneticVariation disease BEFREE We report the characterization of two rare HEXB mutations present in genomic DNA from a single fibroblast cell line, GM203, taken from a patient with the infantile form of Sandhoff disease. 1532910 1992
Entrez Id: 3074
Gene Symbol: HEXB
HEXB 		1.000 GeneticVariation disease CLINVAR Two small deletion mutations of the HEXB gene are present in DNA from a patient with infantile Sandhoff disease. 1532910 1992
Entrez Id: 3074
Gene Symbol: HEXB
HEXB 		1.000 GeneticVariation disease UNIPROT Molecular basis of an adult form of beta-hexosaminidase B deficiency with motor neuron disease. 1720305 1991
Entrez Id: 10724
Gene Symbol: OGA
OGA 		0.100 GeneticVariation disease BEFREE Distribution and characterization of a Sandhoff disease-associated 50-kb deletion in the gene encoding the human beta-hexosaminidase beta-chain. 1975561 1990
Entrez Id: 3074
Gene Symbol: HEXB
HEXB 		1.000 GeneticVariation disease BEFREE We have cloned and fully characterized a deletion at the HEXB gene from fibroblasts of a patient with the infantile form of Sandhoff disease. 2147027 1990
Entrez Id: 10724
Gene Symbol: OGA
OGA 		0.100 AlteredExpression disease BEFREE Sandhoff disease is a recessively inherited lysosomal storage disease resulting from a deficiency of beta-hexosaminidase activity. 2147027 1990
Entrez Id: 3074
Gene Symbol: HEXB
HEXB 		1.000 GeneticVariation disease CLINVAR Juvenile Sandhoff disease: a Japanese patient carrying a mutation identical to that found earlier in a Canadian patient. 2147031 1990
Entrez Id: 3074
Gene Symbol: HEXB
HEXB 		1.000 GeneticVariation disease CLINVAR Two mutations produce intron insertion in mRNA and elongated beta-subunit of human beta-hexosaminidase. 2170400 1990
Entrez Id: 3074
Gene Symbol: HEXB
HEXB 		1.000 CausalMutation disease CLINVAR Genetic cause of a juvenile form of Sandhoff disease. Abnormal splicing of beta-hexosaminidase beta chain gene transcript due to a point mutation within intron 12. 2522450 1989
Entrez Id: 10724
Gene Symbol: OGA
OGA 		0.100 Biomarker disease BEFREE Genetic cause of a juvenile form of Sandhoff disease. Abnormal splicing of beta-hexosaminidase beta chain gene transcript due to a point mutation within intron 12. 2522450 1989
Entrez Id: 3074
Gene Symbol: HEXB
HEXB 		1.000 Biomarker disease BEFREE Field inversion gel electrophoresis (FIGE) of SfiI-digested chromosomal DNA was used to demonstrate a 50-kb deletion in one allele of the gene encoding the beta subunit of human hexosaminidase (HEXB at 5q13) of two apparently unrelated patients with Sandhoff disease. 2921040 1989
Entrez Id: 10724
Gene Symbol: OGA
OGA 		0.100 GeneticVariation disease BEFREE The deficiency was as severe as that of the variant O (Sandhoff's disease) of clinical beta-hexosaminidase deficiency. 6324783 1984
Entrez Id: 3074
Gene Symbol: HEXB
HEXB 		1.000 GeneticVariation disease CLINVAR Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism. 7550345 1995
Entrez Id: 3074
Gene Symbol: HEXB
HEXB 		1.000 Biomarker disease MGD Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism. 7550345 1995
Entrez Id: 3074
Gene Symbol: HEXB
HEXB 		1.000 CausalMutation disease CLINVAR A common beta hexosaminidase gene mutation in adult Sandhoff disease patients. 7557963 1995
Entrez Id: 3074
Gene Symbol: HEXB
HEXB 		1.000 GeneticVariation disease UNIPROT A common beta hexosaminidase gene mutation in adult Sandhoff disease patients. 7557963 1995
Entrez Id: 3074
Gene Symbol: HEXB
HEXB 		1.000 Biomarker disease GENOMICS_ENGLAND A novel missense mutation (C522Y) is present in the beta-hexosaminidase beta-subunit gene of a Japanese patient with infantile Sandhoff disease. 7626071 1995
Entrez Id: 3074
Gene Symbol: HEXB
HEXB 		1.000 GeneticVariation disease 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