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: 17
Gene Symbol: AAVS1
AAVS1
adeno-associated virus integration site 1 78 0.595 0.731 0.010 None 1.000 1 0 2019 2019
Entrez Id: 262
Gene Symbol: AMD1
AMD1
P17707 adenosylmethionine decarboxylase 1 Enzyme 84 0.593 0.577 0.98 0.010 None 1.000 1 0 2012 2012
Entrez Id: 263
Gene Symbol: AMD1P2
AMD1P2
adenosylmethionine decarboxylase 1 pseudogene 2 71 0.608 0.538 0.010 None 1.000 1 0 2012 2012
Entrez Id: 10327
Gene Symbol: AKR1A1
AKR1A1
P14550 aldo-keto reductase family 1 member A1 Enzyme 185 0.510 0.846 6.7E-07 0.010 None 1.000 1 0 2007 2007
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
P78363 ATP binding cassette subfamily A member 4 Transporter 227 0.493 0.769 5.3E-48 1.000 limited 0.995 189 20 1997 2020
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
Q9UNQ0 ATP binding cassette subfamily G member 2 (Junior blood group) Transporter 420 0.419 0.885 2.1E-32 0.060 None 1.000 6 0 1997 2010
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
O76090 bestrophin 1 Ion channel 292 0.465 0.885 1.8E-12 0.010 None 1.000 1 0 2015 2015
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
P13569 CF transmembrane conductance regulator Ion channel 476 0.424 0.885 2.2E-58 0.010 None 1.000 1 0 2019 2019
Entrez Id: 22858
Gene Symbol: CILK1
CILK1
Q9UPZ9 ciliogenesis associated kinase 1 Kinase 142 0.545 0.808 1.3E-05 0.010 None 1.000 1 0 2020 2020
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
Q13286 CLN3 lysosomal/endosomal transmembrane protein, battenin Transporter 120 0.572 0.692 1.3E-07 0.010 None 1.000 1 0 2018 2018
Entrez Id: 3075
Gene Symbol: CFH
CFH
P08603 complement factor H 393 0.441 0.885 0.86 0.010 None 1.000 1 1 2018 2018
Entrez Id: 1406
Gene Symbol: CRX
CRX
O43186 cone-rod homeobox Transcription factor 128 0.565 0.692 0.51 0.010 None 1.000 1 0 2007 2007
Entrez Id: 23418
Gene Symbol: CRB1
CRB1
P82279 crumbs cell polarity complex component 1 116 0.570 0.654 5.6E-16 0.020 None 1.000 2 0 2008 2013
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3
Q9NQW8 cyclic nucleotide gated channel subunit beta 3 Ion channel 67 0.633 0.192 7.8E-19 0.500 None 1.000 1 0 2005 2005
Entrez Id: 1807
Gene Symbol: DPYS
DPYS
Q14117 dihydropyrimidinase Enzyme 63 0.621 0.577 2.8E-11 0.010 None 1.000 1 0 2009 2009
Entrez Id: 1806
Gene Symbol: DPYD
DPYD
Q12882 dihydropyrimidine dehydrogenase Enzyme 249 0.493 0.846 3.4E-22 0.010 None 1.000 1 0 2009 2009
Entrez Id: 6785
Gene Symbol: ELOVL4
ELOVL4
Q9GZR5 ELOVL fatty acid elongase 4 Enzyme 111 0.601 0.577 0.83 0.540 None 1.000 6 0 2005 2012
Entrez Id: 2078
Gene Symbol: ERG
ERG
P11308 ETS transcription factor ERG Transcription factor 298 0.453 0.808 0.96 0.020 None 1.000 2 0 2002 2009
Entrez Id: 2188
Gene Symbol: FANCF
FANCF
Q9NPI8 FA complementation group F 153 0.535 0.731 0.46 0.010 None 1.000 1 0 2018 2018
Entrez Id: 2780
Gene Symbol: GNAT2
GNAT2
P19087 G protein subunit alpha transducin 2 Enzyme modulator 48 0.674 0.231 7.0E-06 0.020 None 0.500 2 0 1995 1995
Entrez Id: 2781
Gene Symbol: GNAZ
GNAZ
P19086 G protein subunit alpha z Enzyme modulator 17 0.722 0.346 0.96 0.010 None 1.000 1 0 1995 1995
Entrez Id: 2916
Gene Symbol: GRM6
GRM6
O15303 glutamate metabotropic receptor 6 G-protein coupled receptor 28 0.700 0.308 4.5E-17 0.010 None 1.000 1 0 2014 2014
Entrez Id: 3000
Gene Symbol: GUCY2D
GUCY2D
Q02846 guanylate cyclase 2D, retinal Kinase 121 0.570 0.769 6.5E-10 0.010 None 1.000 1 0 2007 2007
Entrez Id: 3698
Gene Symbol: ITIH2
ITIH2
P19823 inter-alpha-trypsin inhibitor heavy chain 2 Enzyme modulator 11 0.839 0.308 3.8E-23 0.300 None 1.000 1 0 2017 2017
Entrez Id: 4353
Gene Symbol: MPO
MPO
P05164 myeloperoxidase Enzyme 653 0.377 0.923 7.1E-15 0.010 None 1.000 1 0 2017 2017