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: 7218
Gene Symbol: TRP-AGG2-6
TRP-AGG2-6
tRNA-Pro (anticodon AGG) 2-6 34 0.666 0.462 0.010 None 1.000 1 0 1998 1998
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
Q92562 FIG4 phosphoinositide 5-phosphatase 223 0.551 0.731 2.3E-34 0.010 None 1.000 1 0 2019 2019
Entrez Id: 7299
Gene Symbol: TYR
TYR
P14679 tyrosinase Enzyme 281 0.473 0.808 5.0E-32 0.090 None 1.000 9 0 1987 2019
Entrez Id: 2267
Gene Symbol: FGL1
FGL1
Q08830 fibrinogen like 1 Signaling 53 0.638 0.692 1.7E-25 0.010 None 1.000 1 0 2019 2019
Entrez Id: 7306
Gene Symbol: TYRP1
TYRP1
P17643 tyrosinase related protein 1 Enzyme 200 0.507 0.846 6.6E-25 0.010 None < 0.001 1 0 2009 2009
Entrez Id: 84343
Gene Symbol: HPS3
HPS3
Q969F9 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 16 0.769 0.308 2.9E-21 0.010 None 1.000 1 0 2002 2002
Entrez Id: 23523
Gene Symbol: CABIN1
CABIN1
Q9Y6J0 calcineurin binding protein 1 Enzyme modulator 136 0.536 0.846 3.3E-17 0.010 None 1.000 1 0 2017 2017
Entrez Id: 1638
Gene Symbol: DCT
DCT
P40126 dopachrome tautomerase Enzyme 59 0.619 0.654 7.4E-14 0.010 None 1.000 1 0 1998 1998
Entrez Id: 57724
Gene Symbol: EPG5
EPG5
Q9HCE0 ectopic P-granules autophagy protein 5 homolog 94 0.623 0.769 1.4E-13 0.010 None 1.000 1 0 2014 2014
Entrez Id: 11234
Gene Symbol: HPS5
HPS5
Q9UPZ3 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 45 0.674 0.423 1.9E-13 0.010 None 1.000 1 0 2018 2018
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
Q04671 OCA2 melanosomal transmembrane protein 141 0.539 0.808 2.9E-13 0.030 None 1.000 3 2 2011 2016
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
Q13753 laminin subunit gamma 2 Enzyme modulator 602 0.389 0.923 2.9E-12 0.010 None 1.000 1 0 2020 2020
Entrez Id: 4157
Gene Symbol: MC1R
MC1R
Q01726 melanocortin 1 receptor G-protein coupled receptor 183 0.524 0.808 8.1E-11 0.010 None 1.000 1 0 2011 2011
Entrez Id: 79083
Gene Symbol: MLPH
MLPH
Q9BV36 melanophilin Cellular structure 23 0.743 0.423 4.4E-10 0.020 None 1.000 2 0 2003 2004
Entrez Id: 283652
Gene Symbol: SLC24A5
SLC24A5
Q71RS6 solute carrier family 24 member 5 Transporter 25 0.760 0.308 5.2E-10 0.010 None 1.000 1 0 2012 2012
Entrez Id: 2315
Gene Symbol: MLANA
MLANA
Q16655 melan-A 92 0.579 0.692 1.3E-09 0.010 None 1.000 1 0 2002 2002
Entrez Id: 7389
Gene Symbol: UROD
UROD
P06132 uroporphyrinogen decarboxylase 166 0.521 0.769 1.3E-08 0.010 None 1.000 1 0 2009 2009
Entrez Id: 3257
Gene Symbol: HPS1
HPS1
Q92902 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 64 0.636 0.692 1.3E-07 0.020 None 1.000 2 0 2014 2019
Entrez Id: 5873
Gene Symbol: RAB27A
RAB27A
P51159 RAB27A, member RAS oncogene family 108 0.585 0.692 3.0E-07 0.040 None 1.000 4 0 2003 2011
Entrez Id: 5362
Gene Symbol: PLXNA2
PLXNA2
O75051 plexin A2 307 0.447 0.808 1.1E-06 0.010 None 1.000 1 0 2018 2018
Entrez Id: 200576
Gene Symbol: PIKFYVE
PIKFYVE
Q9Y2I7 phosphoinositide kinase, FYVE-type zinc finger containing Kinase 27 0.722 0.577 1.1E-06 0.010 None 1.000 1 0 2019 2019
Entrez Id: 51151
Gene Symbol: SLC45A2
SLC45A2
Q9UMX9 solute carrier family 45 member 2 Transporter 75 0.626 0.538 1.7E-06 0.020 None 1.000 2 0 2011 2012
Entrez Id: 5443
Gene Symbol: POMC
POMC
P01189 proopiomelanocortin 873 0.356 0.846 1.2E-04 0.020 None 0.500 2 2 1987 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 2007 2007
Entrez Id: 23328
Gene Symbol: SASH1
SASH1
O94885 SAM and SH3 domain containing 1 67 0.599 0.538 1.8E-03 0.010 None 1.000 1 0 2016 2016