Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036572
Disease: Seizures
Seizures 		0.300 Biomarker 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