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: 80267
Gene Symbol: EDEM3
EDEM3 		ER degradation enhancing alpha-mannosidase like protein 3 0.931 0.154 2.5E-03
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 2