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: 6519
Gene Symbol: SLC3A1
SLC3A1
solute carrier family 3 member 1 0.593 0.731 7.2E-27
CUI: C0010691
Disease: Cystinuria
Cystinuria
disease 1.000 definitive 0.987 10 0 1993 2019
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
solute carrier family 7 member 9 0.666 0.692 9.1E-10
CUI: C0010691
Disease: Cystinuria
Cystinuria
disease 1.000 definitive 1.000 9 0 1999 2018