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: 5717
Gene Symbol: PSMD11
PSMD11 		proteasome 26S subunit, non-ATPase 11 0.839 0.269 1.00
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 1