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: 4286
Gene Symbol: MITF
MITF
O75030 melanocyte inducing transcription factor 244 0.499 0.808 0.98 0.100 None 1.000 4 1 2011 2016
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 202 0.554 0.731 1.3E-02 0.100 None 1.000 2 2 2004 2008
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
O75496 geminin DNA replication inhibitor 153 0.554 0.808 0.11 0.100 None 1.000 1 1 2015 2015
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
P78357 contactin associated protein 1 166 0.554 0.577 3.4E-05 0.100 None 1.000 1 1 2017 2017
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
Q14004 cyclin dependent kinase 13 Kinase 141 0.606 0.692 0.91 0.100 None 1.000 1 1 2017 2017
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
P42345 mechanistic target of rapamycin kinase Kinase 960 0.343 0.885 1.00 0.100 None 1.000 1 1 2016 2016
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
Q9H161 ALX homeobox 4 129 0.560 0.692 0.36 0.100 None 0 0
Entrez Id: 583
Gene Symbol: BBS2
BBS2
Q9BXC9 Bardet-Biedl syndrome 2 128 0.565 0.654 1.0E-17 0.100 None 0 0
Entrez Id: 6094
Gene Symbol: ROM1
ROM1
Q03395 retinal outer segment membrane protein 1 117 0.579 0.654 4.1E-04 0.100 None 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
P28328 peroxisomal biogenesis factor 2 152 0.582 0.654 2.6E-04 0.100 None 0 0
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
P63000 Rac family small GTPase 1 Enzyme modulator 415 0.429 0.962 0.76 0.100 None 0 0
Entrez Id: 6100
Gene Symbol: RP9
RP9
Q8TA86 RP9 pre-mRNA splicing factor 54 0.670 0.500 1.9E-02 0.100 None 0 0
Entrez Id: 6101
Gene Symbol: RP1
RP1
P56715 RP1 axonemal microtubule associated 57 0.663 0.462 4.4E-13 0.100 None 0 0
Entrez Id: 6102
Gene Symbol: RP2
RP2
O75695 RP2 activator of ARL3 GTPase Enzyme 45 0.670 0.346 0.96 0.100 None 0 0
Entrez Id: 6103
Gene Symbol: RPGR
RPGR
Q92834 retinitis pigmentosa GTPase regulator 167 0.536 0.692 1.00 0.100 None 0 0
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
Q16518 retinoid isomerohydrolase RPE65 Enzyme 431 0.417 0.808 6.5E-14 0.100 None 0 0
Entrez Id: 60509
Gene Symbol: AGBL5
AGBL5
Q8NDL9 ATP/GTP binding protein like 5 Enzyme 35 0.711 0.269 2.4E-08 0.100 None 0 0
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
RNA component of mitochondrial RNA processing endoribonuclease 239 0.519 0.731 0.100 None 0 0
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
O60216 RAD21 cohesin complex component 192 0.528 0.846 1.00 0.100 None 0 0
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 470 0.418 0.885 0.85 0.100 None 0 1
Entrez Id: 6010
Gene Symbol: RHO
RHO
P08100 rhodopsin G-protein coupled receptor 178 0.525 0.769 1.3E-04 0.100 None 0 0
Entrez Id: 5949
Gene Symbol: RBP3
RBP3
P10745 retinol binding protein 3 73 0.621 0.500 1.1E-04 0.100 None 0 0
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
P23942 peripherin 2 152 0.551 0.500 0.12 0.100 None 0 0
Entrez Id: 5995
Gene Symbol: RGR
RGR
P47804 retinal G protein coupled receptor G-protein coupled receptor 43 0.691 0.385 2.4E-10 0.100 None 0 0
Entrez Id: 60
Gene Symbol: ACTB
ACTB
P60709 actin beta Cellular structure 1110 0.325 0.923 0.99 0.100 None 0 0