HEXA, hexosaminidase subunit alpha, 3073

N. diseases: 79; N. variants: 124
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 26 129 1.000 None 1.000 142 120 1982 2019