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: 6094
Gene Symbol: ROM1
ROM1 		retinal outer segment membrane protein 1 0.579 0.654 4.1E-04
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 limited 0 0
Entrez Id: 57010
Gene Symbol: CABP4
CABP4 		calcium binding protein 4 0.711 0.154 1.7E-10
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 limited 0 0
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7 		kelch like family member 7 0.581 0.731 4.6E-05
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 55812
Gene Symbol: SPATA7
SPATA7 		spermatogenesis associated 7 0.656 0.385 5.2E-13
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		palmitoyl-protein thioesterase 1 0.593 0.808 4.9E-05
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 55212
Gene Symbol: BBS7
BBS7 		Bardet-Biedl syndrome 7 0.682 0.462 7.1E-09
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 54982
Gene Symbol: CLN6
CLN6 		CLN6 transmembrane ER protein 0.670 0.231 1.0E-04
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 54880
Gene Symbol: BCOR
BCOR 		BCL6 corepressor 0.471 0.808 1.00
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: 54714
Gene Symbol: CNGB3
CNGB3 		cyclic nucleotide gated channel subunit beta 3 0.633 0.192 7.8E-19
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1 		RPGR interacting protein 1 0.553 0.654 1.3E-23
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: 6017
Gene Symbol: RLBP1
RLBP1 		retinaldehyde binding protein 1 0.644 0.500 1.1E-05
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 6010
Gene Symbol: RHO
RHO 		rhodopsin 0.525 0.769 1.3E-04
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 limited 0 0
Entrez Id: 5995
Gene Symbol: RGR
RGR 		retinal G protein coupled receptor 0.691 0.385 2.4E-10
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2 		peripherin 2 0.551 0.500 0.12
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 limited 0 0
Entrez Id: 5950
Gene Symbol: RBP4
RBP4 		retinol binding protein 4 0.493 0.808 0.52
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 5949
Gene Symbol: RBP3
RBP3 		retinol binding protein 3 0.621 0.500 1.1E-04
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 585
Gene Symbol: BBS4
BBS4 		Bardet-Biedl syndrome 4 0.647 0.615 1.5E-16
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 583
Gene Symbol: BBS2
BBS2 		Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 54585
Gene Symbol: LZTFL1
LZTFL1 		leucine zipper transcription factor like 1 0.638 0.692 5.9E-02
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 5322
Gene Symbol: PLA2G5
PLA2G5 		phospholipase A2 group V 0.751 0.385 5.4E-05
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 4948
Gene Symbol: OCA2
OCA2 		OCA2 melanosomal transmembrane protein 0.539 0.808 2.9E-13
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 limited 0 0
Entrez Id: 4901
Gene Symbol: NRL
NRL 		neural retina leucine zipper 0.647 0.462 4.8E-02
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0