HEXB, hexosaminidase subunit beta, 3074

N. diseases: 62; N. variants: 49
Disease: SANDHOFF DISEASE, CHRONIC ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310842
Disease: SANDHOFF DISEASE, CHRONIC
SANDHOFF DISEASE, CHRONIC 		0.110 GeneticVariation disease BEFREE We have previously reported two sisters with chronic Sandhoff disease who were heterozygous for the common HEXB deletion allele. 9694901 1998
CUI: C4310842
Disease: SANDHOFF DISEASE, CHRONIC
SANDHOFF DISEASE, CHRONIC 		0.110 CausalMutation disease CLINVAR