HEXB, hexosaminidase subunit beta, 3074

N. diseases: 62; N. variants: 49
Disease: Inborn Errors of Metabolism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025521
Disease: Inborn Errors of Metabolism
Inborn Errors of Metabolism 		0.010 GeneticVariation group BEFREE Allelic variations in the HEXA and HEXB genes cause the fatal inborn errors of metabolism Tay-Sachs disease and Sandhoff disease, respectively. 12706724 2003