HEXB, hexosaminidase subunit beta, 3074

N. diseases: 62; N. variants: 49
Disease: Juvenile Sandhoff Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751491
Disease: Juvenile Sandhoff Disease
Juvenile Sandhoff Disease 		0.530 GermlineCausalMutation disease ORPHANET New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype. 20798201 2010
CUI: C0751491
Disease: Juvenile Sandhoff Disease
Juvenile Sandhoff Disease 		0.530 GeneticVariation disease BEFREE Juvenile Sandhoff disease was diagnosed on the basis of a decreased hexosaminidase activity in leukocytes and a homozygous HEXB gene mutation. 19898952 2009
CUI: C0751491
Disease: Juvenile Sandhoff Disease
Juvenile Sandhoff Disease 		0.530 GeneticVariation disease BEFREE A novel HEXB mutation and its structural effects in juvenile Sandhoff disease. 18930675 2008
CUI: C0751491
Disease: Juvenile Sandhoff Disease
Juvenile Sandhoff Disease 		0.530 AlteredExpression disease BEFREE The molecular basis of a dramatically decreased steady state level of beta-hexosaminidase beta subunit mRNA in a patient with juvenile Sandhoff disease was investigated. 1531140 1992
CUI: C0751491
Disease: Juvenile Sandhoff Disease
Juvenile Sandhoff Disease 		0.530 Biomarker disease CTD_human