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: 8943
Gene Symbol: AP3D1
AP3D1
O14617 adaptor related protein complex 3 subunit delta 1 Transporter 58 0.678 0.385 0.99 0.410 limited 1.000 1 0 2016 2016
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: 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: 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: 51151
Gene Symbol: SLC45A2
SLC45A2
Q9UMX9 solute carrier family 45 member 2 Transporter 75 0.626 0.538 1.7E-06 0.160 None 1.000 6 1 2004 2017
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: 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
Entrez Id: 8546
Gene Symbol: AP3B1
AP3B1
O00203 adaptor related protein complex 3 subunit beta 1 Transporter 83 0.619 0.808 0.62 0.140 None 1.000 4 0 2002 2016
Entrez Id: 4935
Gene Symbol: GPR143
GPR143
P51810 G protein-coupled receptor 143 G-protein coupled receptor 47 0.659 0.385 0.93 0.120 None 1.000 3 2 1995 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: 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: 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: 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: 778
Gene Symbol: CACNA1F
CACNA1F
O60840 calcium voltage-gated channel subunit alpha1 F Ion channel 81 0.595 0.500 1.2E-05 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: 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: 4157
Gene Symbol: MC1R
MC1R
Q01726 melanocortin 1 receptor G-protein coupled receptor 183 0.524 0.808 8.1E-11 0.100 None 0 0
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB
P24530 endothelin receptor type B G-protein coupled receptor 300 0.470 0.846 9.2E-03 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: 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: 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: 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: 2267
Gene Symbol: FGL1
FGL1
Q08830 fibrinogen like 1 Signaling 53 0.638 0.692 1.7E-25 0.020 None 1.000 2 0 2016 2016
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