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: 6663
Gene Symbol: SOX10
SOX10 		P56693 SRY-box transcription factor 10 334 0.461 0.808 0.99 0.070 None 1.000 7 0 1999 2017
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: 4286
Gene Symbol: MITF
MITF 		O75030 melanocyte inducing transcription factor 244 0.499 0.808 0.98 0.030 None 1.000 3 1 2000 2017
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: 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: 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: 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: 22943
Gene Symbol: DKK1
DKK1 		O94907 dickkopf WNT signaling pathway inhibitor 1 372 0.439 0.885 0.17 0.010 None 1.000 1 0 2018 2018
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: 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
Entrez Id: 23509
Gene Symbol: POFUT1
POFUT1 		Q9H488 protein O-fucosyltransferase 1 45 0.650 0.538 0.96 0.010 None 1.000 1 0 2013 2013
Entrez Id: 23682
Gene Symbol: RAB38
RAB38 		P57729 RAB38, member RAS oncogene family 34 0.691 0.500 2.0E-03 0.010 None 1.000 1 0 2007 2007
Entrez Id: 2737
Gene Symbol: GLI3
GLI3 		P10071 GLI family zinc finger 3 400 0.436 0.846 1.00 0.010 None 1.000 1 0 2008 2008
Entrez Id: 388015
Gene Symbol: RTL1
RTL1 		A6NKG5 retrotransposon Gag like 1 119 0.554 0.808 5.6E-03 0.010 None 1.000 1 0 2002 2002
Entrez Id: 4055
Gene Symbol: LTBR
LTBR 		P36941 lymphotoxin beta receptor 78 0.592 0.692 0.31 0.010 None 1.000 1 0 2018 2018
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: 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: 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: 6949
Gene Symbol: TCOF1
TCOF1 		Q13428 treacle ribosome biogenesis factor 1 138 0.550 0.808 0.95 0.010 None 1.000 1 0 2019 2019
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: 7337
Gene Symbol: UBE3A
UBE3A 		Q05086 ubiquitin protein ligase E3A 155 0.561 0.692 1.00 0.010 None 1.000 1 0 2011 2011
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: 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: 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: 4644
Gene Symbol: MYO5A
MYO5A 		Q9Y4I1 myosin VA Cellular structure 82 0.628 0.615 0.94 0.020 None 1.000 2 0 2003 2004