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: 220001
Gene Symbol: VWCE
VWCE 		von Willebrand factor C and EGF domains 0.751 0.231 3.1E-12
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 1