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: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.750 None 0.875 2 0 1988 2020
Entrez Id: 22884
Gene Symbol: WDR37
WDR37 		WD repeat domain 37 0.751 0.231 0.57
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.400 limited 1.000 1 0 2019 2019
Entrez Id: 5914
Gene Symbol: RARA
RARA 		retinoic acid receptor alpha 0.470 0.846 0.96
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.310 None 1.000 1 0 2019 2019