Source: ALL
Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		Q16518 retinoid isomerohydrolase RPE65 Enzyme 431 0.417 0.808 6.5E-14 0.070 None 1.000 7 0 2008 2018
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1 		Q9NZN9 aryl hydrocarbon receptor interacting protein like 1 Chaperone 65 0.644 0.346 1.2E-05 0.030 None 1.000 3 0 2004 2009
Entrez Id: 6314
Gene Symbol: ATXN7
ATXN7 		O15265 ataxin 7 162 0.581 0.654 0.96 0.030 None 1.000 3 0 2005 2019
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1 		Q96KN7 RPGR interacting protein 1 Enzyme modulator 121 0.553 0.654 1.3E-23 0.130 None 1.000 3 1 2005 2008
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		O60313 OPA1 mitochondrial dynamin like GTPase Enzyme modulator 236 0.510 0.846 0.99 0.030 None 1.000 3 0 2017 2019
Entrez Id: 7078
Gene Symbol: TIMP3
TIMP3 		P35625 TIMP metallopeptidase inhibitor 3 Enzyme modulator 325 0.445 0.923 0.63 0.020 None 1.000 2 0 2009 2019
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		Q13402 myosin VIIA Cellular structure 104 0.585 0.423 1.6E-38 0.020 None 1.000 2 0 1999 2017
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA 		P15692 vascular endothelial growth factor A Signaling 1899 0.266 0.923 2.4E-05 0.020 None 1.000 2 0 2019 2019
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5 		O76039 cyclin dependent kinase like 5 Kinase 224 0.522 0.692 1.00 0.020 None 1.000 2 0 2016 2017
Entrez Id: 6505
Gene Symbol: SLC1A1
SLC1A1 		P43005 solute carrier family 1 member 1 Transporter 122 0.561 0.654 8.7E-06 0.020 None 1.000 2 0 2017 2019
Entrez Id: 4942
Gene Symbol: OAT
OAT 		P04181 ornithine aminotransferase Enzyme 92 0.593 0.731 7.7E-07 0.020 None 1.000 2 0 1988 1992
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2 		P23942 peripherin 2 152 0.551 0.500 0.12 0.020 None 1.000 2 3 1998 2016
Entrez Id: 4691
Gene Symbol: NCL
NCL 		P19338 nucleolin Nucleic acid binding 167 0.509 0.808 1.00 0.020 None 1.000 2 0 2013 2019
Entrez Id: 54982
Gene Symbol: CLN6
CLN6 		Q9NWW5 CLN6 transmembrane ER protein 59 0.670 0.231 1.0E-04 0.020 None 1.000 2 0 2019 2019
Entrez Id: 56476
Gene Symbol: ABCB10P1
ABCB10P1 		ABCB10 pseudogene 1 9 0.839 0.231 0.010 None 1.000 1 0 2017 2017
Entrez Id: 5630
Gene Symbol: PRPH
PRPH 		P41219 peripherin 73 0.623 0.462 4.8E-14 0.010 None 1.000 1 1 1998 1998
Entrez Id: 5654
Gene Symbol: HTRA1
HTRA1 		Q92743 HtrA serine peptidase 1 Enzyme 164 0.532 0.692 4.9E-04 0.010 None 1.000 1 0 2008 2008
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		Q5JTZ9 alanyl-tRNA synthetase 2, mitochondrial Nucleic acid binding 64 0.644 0.500 5.0E-17 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 470 0.418 0.885 0.85 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5949
Gene Symbol: RBP3
RBP3 		P10745 retinol binding protein 3 73 0.621 0.500 1.1E-04 0.010 None 1.000 1 0 2013 2013
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		P60709 actin beta Cellular structure 1110 0.325 0.923 0.99 0.010 None 1.000 1 0 1999 1999
Entrez Id: 55872
Gene Symbol: PBK
PBK 		Q96KB5 PDZ binding kinase Kinase 121 0.541 0.769 1.2E-06 0.010 None 1.000 1 0 2015 2015
Entrez Id: 5579
Gene Symbol: PRKCB
PRKCB 		P05771 protein kinase C beta Kinase 317 0.453 0.885 1.00 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		P50897 palmitoyl-protein thioesterase 1 Enzyme 112 0.593 0.808 4.9E-05 0.010 None 1.000 1 0 1999 1999
Entrez Id: 4653
Gene Symbol: MYOC
MYOC 		Q99972 myocilin Cellular structure 79 0.595 0.500 7.6E-12 0.010 None 1.000 1 0 2007 2007