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: 5015
Gene Symbol: OTX2
OTX2 		orthodenticle homeobox 2 0.514 0.808 0.92
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group 0.410 strong 1.000 0 0 2009 2009
Entrez Id: 5631
Gene Symbol: PRPS1
PRPS1 		phosphoribosyl pyrophosphate synthetase 1 0.584 0.731 0.92
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group 0.400 strong 1.000 1 0 2018 2018
Entrez Id: 2527
Gene Symbol: FUT5
FUT5 		fucosyltransferase 5 0.760 0.115
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group 0.300 None 1.000 1 0 2017 2017
Entrez Id: 79883
Gene Symbol: PODNL1
PODNL1 		podocan like 1 4.4E-13
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group 0.300 None 1.000 1 0 2017 2017