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: 23428
Gene Symbol: SLC7A8
SLC7A8 		solute carrier family 7 member 8 0.743 0.423 5.1E-08
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 2