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: 3735
Gene Symbol: KARS1
KARS1 		lysyl-tRNA synthetase 1 0.636 0.577 4.2E-09
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.400 strong 1.000 0 1 2015 2017