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: 7436
Gene Symbol: VLDLR
VLDLR 		very low density lipoprotein receptor 0.558 0.692 2.0E-11
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		disease 0.410 strong 1.000 2 0 2005 2008
Entrez Id: 4081
Gene Symbol: MAB21L1
MAB21L1 		mab-21 like 1 0.736 0.192 0.29
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		disease 0.400 strong 1.000 1 0 2019 2019
Entrez Id: 55210
Gene Symbol: ATAD3A
ATAD3A 		ATPase family AAA domain containing 3A 0.628 0.692 4.1E-09
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		disease 0.310 strong 1.000 1 0 2016 2019
Entrez Id: 23057
Gene Symbol: NMNAT2
NMNAT2 		nicotinamide nucleotide adenylyltransferase 2 0.670 0.500 0.99
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		disease 0.300 None 1.000 2 0 2012 2019
Entrez Id: 128869
Gene Symbol: PIGU
PIGU 		phosphatidylinositol glycan anchor biosynthesis class U 0.670 0.462 1.9E-05
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		disease 0.300 strong 1.000 1 0 2019 2019