Source: GENOMICS_ENGLAND

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: 3158
Gene Symbol: HMGCS2
HMGCS2
3-hydroxy-3-methylglutaryl-CoA synthase 2 0.701 0.310 9.3E-14
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 0 0