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: 83480
Gene Symbol: PUS3
PUS3 		pseudouridine synthase 3 0.780 0.346 1.4E-08
CUI: C4310745
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55 		disease 0.700 strong 1.000 1 0 2016 2016
Entrez Id: 83480
Gene Symbol: PUS3
PUS3 		pseudouridine synthase 3 0.780 0.346 1.4E-08
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.400 strong 1.000 1 0 2016 2016
Entrez Id: 83480
Gene Symbol: PUS3
PUS3 		pseudouridine synthase 3 0.780 0.346 1.4E-08
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.400 strong 1.000 1 0 2016 2016
Entrez Id: 83480
Gene Symbol: PUS3
PUS3 		pseudouridine synthase 3 0.780 0.346 1.4E-08
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.320 strong 1.000 1 0 2016 2017