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: 2916
Gene Symbol: GRM6
GRM6 		glutamate metabotropic receptor 6 0.700 0.308 4.5E-17
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		disease 0.800 strong 1.000 0 0 2005 2019
Entrez Id: 4308
Gene Symbol: TRPM1
TRPM1 		transient receptor potential cation channel subfamily M member 1 0.626 0.462 1.6E-42
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		disease 0.800 strong 1.000 0 0 2009 2019
Entrez Id: 6010
Gene Symbol: RHO
RHO 		rhodopsin 0.525 0.769 1.3E-04
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		disease 0.800 strong 1.000 0 0 1993 2016
Entrez Id: 2779
Gene Symbol: GNAT1
GNAT1 		G protein subunit alpha transducin 1 0.666 0.308 9.9E-13
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		disease 0.730 strong 1.000 0 0 1996 2016
Entrez Id: 345193
Gene Symbol: LRIT3
LRIT3 		leucine rich repeat, Ig-like and transmembrane domains 3 0.716 0.115 2.0E-11
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		disease 0.720 strong 1.000 1 0 2013 2019
Entrez Id: 440435
Gene Symbol: GPR179
GPR179 		G protein-coupled receptor 179 0.716 0.115 3.2E-27
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		disease 0.720 strong 1.000 0 0 2012 2013
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B 		phosphodiesterase 6B 0.626 0.346 2.6E-27
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		disease 0.720 strong 1.000 0 0 1994 2007
Entrez Id: 9187
Gene Symbol: SLC24A1
SLC24A1 		solute carrier family 24 member 1 0.716 0.154 9.2E-05
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		disease 0.720 strong 1.000 0 0 2010 2016
Entrez Id: 6295
Gene Symbol: SAG
SAG 		S-antigen visual arrestin 0.570 0.731 1.5E-16
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		disease 0.710 strong 1.000 0 0 1995 2009
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F 		calcium voltage-gated channel subunit alpha1 F 0.595 0.500 1.2E-05
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		disease 0.700 strong 1.000 0 0 1993 2018
Entrez Id: 60506
Gene Symbol: NYX
NYX 		nyctalopin 0.678 0.192 0.13
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		disease 0.700 strong 0.923 0 0 2000 2015
Entrez Id: 57010
Gene Symbol: CABP4
CABP4 		calcium binding protein 4 0.711 0.154 1.7E-10
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		disease 0.620 strong 1.000 0 0 2006 2010
Entrez Id: 93589
Gene Symbol: CACNA2D4
CACNA2D4 		calcium voltage-gated channel auxiliary subunit alpha2delta 4 0.716 0.269 1.5E-34
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		disease 0.510 strong 0.667 1 0 2009 2016
Entrez Id: 5959
Gene Symbol: RDH5
RDH5 		retinol dehydrogenase 5 0.656 0.462 8.9E-11
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		disease 0.310 strong 1.000 1 0 1999 2011
Entrez Id: 5950
Gene Symbol: RBP4
RBP4 		retinol binding protein 4 0.493 0.808 0.52
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		disease 0.300 strong 0 0