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: 6812
Gene Symbol: STXBP1
STXBP1 		syntaxin binding protein 1 0.532 0.692 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.150 None 1.000 1 4 2010 2019