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: 6657
Gene Symbol: SOX2
SOX2
P48431 SRY-box transcription factor 2 Transcription factor 503 0.405 0.808 0.71 0.200 None 0.850 20 0 2006 2020
Entrez Id: 5015
Gene Symbol: OTX2
OTX2
P32243 orthodenticle homeobox 2 Transcription factor 200 0.514 0.808 0.92 0.200 None 1.000 16 0 2007 2019
Entrez Id: 7299
Gene Symbol: TYR
TYR
P14679 tyrosinase Enzyme 281 0.473 0.808 5.0E-32 0.100 None 1.000 13 0 1995 2020
Entrez Id: 220
Gene Symbol: ALDH1A3
ALDH1A3
P47895 aldehyde dehydrogenase 1 family member A3 Enzyme 83 0.578 0.654 0.14 0.180 None 1.000 8 0 2013 2018
Entrez Id: 2703
Gene Symbol: GJA8
GJA8
P48165 gap junction protein alpha 8 Cell-cell junction 82 0.587 0.577 2.2E-03 0.260 None 1.000 7 0 1998 2019
Entrez Id: 7030
Gene Symbol: TFE3
TFE3
P19532 transcription factor binding to IGHM enhancer 3 118 0.542 0.654 0.98 0.060 None 1.000 6 0 1998 2019
Entrez Id: 7942
Gene Symbol: TFEB
TFEB
P19484 transcription factor EB 150 0.527 0.731 0.90 0.050 None 1.000 5 0 2000 2019
Entrez Id: 7306
Gene Symbol: TYRP1
TYRP1
P17643 tyrosinase related protein 1 Enzyme 200 0.507 0.846 6.6E-25 0.050 None 1.000 5 0 1995 2019
Entrez Id: 64220
Gene Symbol: STRA6
STRA6
Q9BX79 signaling receptor and transporter of retinol STRA6 100 0.597 0.731 1.5E-10 0.440 None 1.000 5 0 2007 2013
Entrez Id: 5309
Gene Symbol: PITX3
PITX3
O75364 paired like homeodomain 3 93 0.585 0.692 0.81 0.440 None 1.000 4 0 2006 2012
Entrez Id: 2315
Gene Symbol: MLANA
MLANA
Q16655 melan-A 92 0.579 0.692 1.3E-09 0.040 None 0.750 4 0 2004 2011
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
Q6KF10 growth differentiation factor 6 91 0.587 0.500 0.99 0.130 None 1.000 3 0 2007 2012
Entrez Id: 745
Gene Symbol: MYRF
MYRF
Q9Y2G1 myelin regulatory factor 102 0.584 0.731 1.00 0.320 strong 1.000 3 0 2019 2019
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
O76090 bestrophin 1 Ion channel 292 0.465 0.885 1.8E-12 0.320 None 1.000 3 0 2004 2009
Entrez Id: 23418
Gene Symbol: CRB1
CRB1
P82279 crumbs cell polarity complex component 1 116 0.570 0.654 5.6E-16 0.320 None 1.000 3 0 2009 2014
Entrez Id: 5903
Gene Symbol: RANBP2
RANBP2
P49792 RAN binding protein 2 Enzyme modulator 110 0.578 0.615 1.00 0.030 None 1.000 3 0 1999 2019
Entrez Id: 5454
Gene Symbol: POU3F2
POU3F2
P20265 POU class 3 homeobox 2 40 0.700 0.423 0.92 0.030 None 1.000 3 0 1995 2012
Entrez Id: 60
Gene Symbol: ACTB
ACTB
P60709 actin beta Cellular structure 1110 0.325 0.923 0.99 0.020 None 0.500 2 0 2004 2010
Entrez Id: 4311
Gene Symbol: MME
MME
P08473 membrane metalloendopeptidase Enzyme 470 0.407 0.808 1.5E-18 0.020 None 1.000 2 0 2012 2019
Entrez Id: 1638
Gene Symbol: DCT
DCT
P40126 dopachrome tautomerase Enzyme 59 0.619 0.654 7.4E-14 0.020 None 1.000 2 0 2018 2019
Entrez Id: 1674
Gene Symbol: DES
DES
P17661 desmin 330 0.460 0.846 8.8E-03 0.020 None 1.000 2 0 2010 2018
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
P43235 cathepsin K Enzyme 221 0.497 0.808 3.1E-05 0.020 None 1.000 2 0 2009 2011
Entrez Id: 5443
Gene Symbol: POMC
POMC
P01189 proopiomelanocortin 873 0.356 0.846 1.2E-04 0.020 None 1.000 2 0 1998 2018
Entrez Id: 414
Gene Symbol: ARSD
ARSD
P51689 arylsulfatase D Enzyme 163 0.535 0.808 1.6E-03 0.020 None 1.000 2 0 1998 2016
Entrez Id: 23691
Gene Symbol: NNO1
NNO1
nanophthalmos 1 1 1.000 0.077 0.020 None 1.000 2 0 2009 2019