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: 4286
Gene Symbol: MITF
MITF 		O75030 melanocyte inducing transcription factor 244 0.499 0.808 0.98 0.330 None 1.000 9 1 1967 2019
Entrez Id: 4948
Gene Symbol: OCA2
OCA2 		Q04671 OCA2 melanosomal transmembrane protein 141 0.539 0.808 2.9E-13 0.150 None 1.000 5 5 2003 2016
Entrez Id: 1130
Gene Symbol: LYST
LYST 		Q99698 lysosomal trafficking regulator 114 0.621 0.692 1.5E-02 0.300 strong 1.000 3 0 2002 2014
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 0.120 None 1.000 2 0 2016 2016
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		P26367 paired box 6 340 0.450 0.769 1.00 0.020 None 1.000 2 0 2013 2018
Entrez Id: 5873
Gene Symbol: RAB27A
RAB27A 		P51159 RAB27A, member RAS oncogene family 108 0.585 0.692 3.0E-07 0.020 None 1.000 2 0 2015 2016
Entrez Id: 90167
Gene Symbol: FRMD7
FRMD7 		Q6ZUT3 FERM domain containing 7 31 0.682 0.462 0.73 0.020 None 1.000 2 0 2011 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 0.110 None 1.000 1 0 2017 2017
Entrez Id: 26258
Gene Symbol: BLOC1S6
BLOC1S6 		Q9UL45 biogenesis of lysosomal organelles complex 1 subunit 6 15 0.769 0.308 8.0E-09 0.010 None 1.000 1 0 2011 2011
Entrez Id: 3267
Gene Symbol: AGFG1
AGFG1 		P52594 ArfGAP with FG repeats 1 100 0.569 0.769 0.99 0.010 None 1.000 1 0 2016 2016
Entrez Id: 3423
Gene Symbol: IDS
IDS 		P22304 iduronate 2-sulfatase 136 0.559 0.769 0.95 0.010 None 1.000 1 0 2011 2011
Entrez Id: 3630
Gene Symbol: INS
INS 		P01308 insulin 405 0.445 0.923 0.30 0.010 None 1.000 1 0 2019 2019
Entrez Id: 441931
Gene Symbol: VN1R17P
VN1R17P 		Q8TDU5 vomeronasal 1 receptor 17 pseudogene 167 0.529 0.923 0.010 None 1.000 1 0 2008 2008
Entrez Id: 442206
Gene Symbol: GPR166P
GPR166P 		G protein-coupled receptor 166 pseudogene 165 0.531 0.923 0.010 None 1.000 1 0 2008 2008
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 2014 2014
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: 83938
Gene Symbol: LRMDA
LRMDA 		Q9H2I8 leucine rich melanocyte differentiation associated 64 0.659 0.577 2.6E-04 0.110 None 1.000 1 0 2013 2013
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 2016 2016
Entrez Id: 89781
Gene Symbol: HPS4
HPS4 		Q9NQG7 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 26 0.743 0.385 1.4E-04 0.110 None 1.000 1 0 2017 2017
Entrez Id: 388552
Gene Symbol: BLOC1S3
BLOC1S3 		Q6QNY0 biogenesis of lysosomal organelles complex 1 subunit 3 32 0.729 0.385 4.1E-03 0.100 None 0 0
Entrez Id: 57724
Gene Symbol: EPG5
EPG5 		Q9HCE0 ectopic P-granules autophagy protein 5 homolog 94 0.623 0.769 1.4E-13 0.100 None 0 0
Entrez Id: 79803
Gene Symbol: HPS6
HPS6 		Q86YV9 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 21 0.769 0.308 2.8E-04 0.100 None 0 0
Entrez Id: 84062
Gene Symbol: DTNBP1
DTNBP1 		Q96EV8 dystrobrevin binding protein 1 93 0.588 0.615 6.8E-06 0.100 None 0 0
Entrez Id: 7299
Gene Symbol: TYR
TYR 		P14679 tyrosinase Enzyme 281 0.473 0.808 5.0E-32 0.400 None 0.921 38 14 1980 2019
Entrez Id: 7306
Gene Symbol: TYRP1
TYRP1 		P17643 tyrosinase related protein 1 Enzyme 200 0.507 0.846 6.6E-25 0.150 None 1.000 5 3 1993 2014