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: 8036
Gene Symbol: SHOC2
SHOC2 		SHOC2 leucine rich repeat scaffold protein 0.593 0.769 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 7 1 2009 2015