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: 5007
Gene Symbol: OSBP
OSBP 		oxysterol binding protein 0.705 0.346 1.00
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 1