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: 22941
Gene Symbol: SHANK2
SHANK2 		SH3 and multiple ankyrin repeat domains 2 0.663 0.385 8.4E-07
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype 0.100 None 1.000 12 1 2010 2017