Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		hexosaminidase subunit alpha 0.633 0.615 1.3E-11
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.100 None 1.000 5 11 1992 2014