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: 10002
Gene Symbol: NR2E3
NR2E3 		nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 7399
Gene Symbol: USH2A
USH2A 		usherin 0.579 0.692 1.6E-94
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		centrosomal protein 290 0.517 0.769 1.1E-60
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 strong 1.000 1 0 2007 2007
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1 		ALMS1 centrosome and basal body associated protein 0.559 0.808 4.5E-60
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 158326
Gene Symbol: FREM1
FREM1 		FRAS1 related extracellular matrix 1 0.633 0.423 1.6E-52
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 limited 0 0
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.340 None 1.000 0 0 2000 2015
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1 		Fraser extracellular matrix complex subunit 1 0.560 0.577 3.1E-45
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 limited 0 0
Entrez Id: 4308
Gene Symbol: TRPM1
TRPM1 		transient receptor potential cation channel subfamily M member 1 0.626 0.462 1.6E-42
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 limited 0 0
Entrez Id: 346007
Gene Symbol: EYS
EYS 		eyes shut homolog 0.631 0.538 3.7E-41
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1 		adhesion G protein-coupled receptor V1 0.572 0.731 3.2E-39
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		myosin VIIA 0.585 0.423 1.6E-38
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 7466
Gene Symbol: WFS1
WFS1 		wolframin ER transmembrane glycoprotein 0.528 0.846 1.6E-38
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 limited 0 0
Entrez Id: 1258
Gene Symbol: CNGB1
CNGB1 		cyclic nucleotide gated channel subunit beta 1 0.628 0.538 1.8E-37
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1 		ciliogenesis and planar polarity effector 1 0.575 0.692 5.9E-36
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 limited 0 0
Entrez Id: 93589
Gene Symbol: CACNA2D4
CACNA2D4 		calcium voltage-gated channel auxiliary subunit alpha2delta 4 0.716 0.269 1.5E-34
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 limited 0 0
Entrez Id: 7299
Gene Symbol: TYR
TYR 		tyrosinase 0.473 0.808 5.0E-32
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 limited 1.000 1 0 2017 2017
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L 		RPGRIP1 like 0.534 0.769 4.1E-31
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.500 strong 1.000 0 0 2007 2007
Entrez Id: 261734
Gene Symbol: NPHP4
NPHP4 		nephrocystin 4 0.674 0.423 1.7E-29
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A 		coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 strong 0 0
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B 		phosphodiesterase 6B 0.626 0.346 2.6E-27
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.310 limited 1.000 0 0 2000 2000
Entrez Id: 440435
Gene Symbol: GPR179
GPR179 		G protein-coupled receptor 179 0.716 0.115 3.2E-27
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 limited 0 0
Entrez Id: 169522
Gene Symbol: KCNV2
KCNV2 		potassium voltage-gated channel modifier subfamily V member 2 0.736 0.115 1.2E-26
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.310 None 1.000 0 0 2013 2013
Entrez Id: 79809
Gene Symbol: TTC21B
TTC21B 		tetratricopeptide repeat domain 21B 0.619 0.654 2.7E-26
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 limited 0 0
Entrez Id: 54806
Gene Symbol: AHI1
AHI1 		Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 strong 0 0
Entrez Id: 7306
Gene Symbol: TYRP1
TYRP1 		tyrosinase related protein 1 0.507 0.846 6.6E-25
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 limited 1.000 1 0 1999 1999