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: 54676
Gene Symbol: GTPBP2
GTPBP2 		GTP binding protein 2 0.736 0.423 0.32
CUI: C4693848
Disease: JABERI-ELAHI SYNDROME
JABERI-ELAHI SYNDROME 		disease 0.400 strong 1.000 0 4 2014 2014