Source: CLINGEN

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: 2937
Gene Symbol: GSS
GSS 		glutathione synthetase 0.626 0.731 1.8E-06
CUI: C0398746
Disease: Gluthathione synthetase deficiency
Gluthathione synthetase deficiency 		disease 0.740 definitive 0.944 11 0 1953 2019