rs373979283, HEXB

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Sandhoff Disease
CUI: C0036161
Disease: Sandhoff Disease
0.700 GeneticVariation CLINVAR Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients. 23046579 2013
Sandhoff Disease
CUI: C0036161
Disease: Sandhoff Disease
0.700 GeneticVariation CLINVAR GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients. 22789865 2012
Sandhoff Disease
CUI: C0036161
Disease: Sandhoff Disease
0.700 GeneticVariation CLINVAR The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported. 17015493 2006