Source: GENOMICS_ENGLAND

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: 54517
Gene Symbol: PUS7
PUS7 		pseudouridine synthase 7 0.769 0.308 1.3E-09
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.410 strong 1.000 1 0 2018 2019