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: 10483
Gene Symbol: SEC23B
SEC23B 		SEC23 homolog B, COPII coat complex component 0.579 0.692 6.1E-20
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia 		disease 0.580 strong 1.000 1 0 1982 2018
Entrez Id: 10661
Gene Symbol: KLF1
KLF1 		Kruppel like factor 1 0.621 0.462 3.6E-04
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia 		disease 0.560 strong 1.000 2 0 2010 2020
Entrez Id: 84529
Gene Symbol: C15orf41
C15orf41 		chromosome 15 open reading frame 41 0.805 0.115 3.3E-07
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia 		disease 0.510 strong 1.000 2 0 1997 2018
Entrez Id: 9663
Gene Symbol: LPIN2
LPIN2 		lipin 2 0.628 0.615 5.0E-05
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia 		disease 0.310 strong 1.000 2 0 2005 2013