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: 56984
Gene Symbol: PSMG2
PSMG2
proteasome assembly chaperone 2 0.839 0.115 2.4E-07
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1