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: 7439
Gene Symbol: BEST1
BEST1 		O76090 bestrophin 1 Ion channel 292 0.465 0.885 1.8E-12 1.000 None 0.972 109 106 1993 2019
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2 		P23942 peripherin 2 152 0.551 0.500 0.12 0.430 None 1.000 4 1 2011 2019
Entrez Id: 3617
Gene Symbol: IMPG1
IMPG1 		Q17R60 interphotoreceptor matrix proteoglycan 1 Extracellular structure 22 0.722 0.154 1.4E-29 0.330 None 1.000 3 1 2013 2014
Entrez Id: 50939
Gene Symbol: IMPG2
IMPG2 		Q9BZV3 interphotoreceptor matrix proteoglycan 2 Extracellular structure 57 0.659 0.308 2.8E-13 0.310 None 1.000 1 1 2014 2014
Entrez Id: 1756
Gene Symbol: DMD
DMD 		P11532 dystrophin 484 0.423 0.923 1.00 0.100 None 0.951 81 0 1987 2020
Entrez Id: 2495
Gene Symbol: FTH1
FTH1 		P02794 ferritin heavy chain 1 Storage 107 0.559 0.731 0.14 0.100 None 1.000 2 6 2011 2014
Entrez Id: 5362
Gene Symbol: PLXNA2
PLXNA2 		O75051 plexin A2 307 0.447 0.808 1.1E-06 0.060 None 1.000 6 0 2008 2019
Entrez Id: 5837
Gene Symbol: PYGM
PYGM 		P11217 glycogen phosphorylase, muscle associated Enzyme 58 0.650 0.577 2.0E-13 0.040 None 1.000 4 0 1994 1995
Entrez Id: 6094
Gene Symbol: ROM1
ROM1 		Q03395 retinal outer segment membrane protein 1 117 0.579 0.654 4.1E-04 0.030 None 1.000 3 0 1994 1995
Entrez Id: 7356
Gene Symbol: SCGB1A1
SCGB1A1 		P11684 secretoglobin family 1A member 1 Signaling 133 0.546 0.808 8.0E-04 0.020 None 1.000 2 0 1996 2000
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		P78363 ATP binding cassette subfamily A member 4 Transporter 227 0.493 0.769 5.3E-48 0.020 None 1.000 2 0 2008 2017
Entrez Id: 65057
Gene Symbol: ACD
ACD 		Q96AP0 ACD shelterin complex subunit and telomerase recruitment factor 96 0.603 0.731 1.1E-12 0.010 None 1.000 1 0 2019 2019
Entrez Id: 6431
Gene Symbol: SRSF6
SRSF6 		Q13247 serine and arginine rich splicing factor 6 Nucleic acid binding 37 0.670 0.462 0.91 0.010 None 1.000 1 0 2009 2009
Entrez Id: 6430
Gene Symbol: SRSF5
SRSF5 		Q13243 serine and arginine rich splicing factor 5 Nucleic acid binding 74 0.604 0.808 0.69 0.010 None 1.000 1 0 2009 2009
Entrez Id: 6462
Gene Symbol: SHBG
SHBG 		P04278 sex hormone binding globulin 368 0.438 0.808 1.3E-06 0.010 None 1.000 1 0 2017 2017
Entrez Id: 6427
Gene Symbol: SRSF2
SRSF2 		Q01130 serine and arginine rich splicing factor 2 Nucleic acid binding 102 0.561 0.731 0.48 0.010 None 1.000 1 0 2009 2009
Entrez Id: 6426
Gene Symbol: SRSF1
SRSF1 		Q07955 serine and arginine rich splicing factor 1 Nucleic acid binding 98 0.563 0.692 0.98 0.010 None 1.000 1 0 2009 2009
Entrez Id: 6299
Gene Symbol: SALL1
SALL1 		Q9NSC2 spalt like transcription factor 1 Transcription factor 156 0.539 0.808 1.00 0.010 None 1.000 1 0 2017 2017
Entrez Id: 6120
Gene Symbol: RPE
RPE 		Q96AT9 ribulose-5-phosphate-3-epimerase 90 0.575 0.538 2.5E-04 0.010 None 1.000 1 0 2004 2004
Entrez Id: 6010
Gene Symbol: RHO
RHO 		P08100 rhodopsin G-protein coupled receptor 178 0.525 0.769 1.3E-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 2000 2000
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		P37023 activin A receptor like type 1 Kinase 224 0.493 0.769 9.7E-04 0.010 None 1.000 1 2 2016 2016
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1 		Q9H799 ciliogenesis and planar polarity effector 1 120 0.575 0.692 5.9E-36 0.010 None 1.000 1 0 1997 1997
Entrez Id: 654
Gene Symbol: BMP6
BMP6 		P22004 bone morphogenetic protein 6 Signaling 137 0.531 0.808 0.76 0.010 None 1.000 1 0 2018 2018
Entrez Id: 9104
Gene Symbol: RGN
RGN 		Q15493 regucalcin Enzyme 96 0.566 0.692 2.2E-02 0.010 None 1.000 1 0 2017 2017