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: 7299
Gene Symbol: TYR
TYR
P14679 tyrosinase Enzyme 281 0.473 0.808 5.0E-32 0.900 strong 0.982 112 15 1981 2019
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
Q04671 OCA2 melanosomal transmembrane protein 141 0.539 0.808 2.9E-13 0.600 strong 0.974 38 10 1994 2019
Entrez Id: 51151
Gene Symbol: SLC45A2
SLC45A2
Q9UMX9 solute carrier family 45 member 2 Transporter 75 0.626 0.538 1.7E-06 0.600 strong 0.923 26 5 2001 2019
Entrez Id: 7306
Gene Symbol: TYRP1
TYRP1
P17643 tyrosinase related protein 1 Enzyme 200 0.507 0.846 6.6E-25 0.400 strong 1.000 15 0 1996 2018
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 0.400 strong 0.909 11 4 1998 2019
Entrez Id: 283652
Gene Symbol: SLC24A5
SLC24A5
Q71RS6 solute carrier family 24 member 5 Transporter 25 0.760 0.308 5.2E-10 0.370 strong 1.000 7 1 2013 2019
Entrez Id: 4286
Gene Symbol: MITF
MITF
O75030 melanocyte inducing transcription factor 244 0.499 0.808 0.98 0.310 None 1.000 2 0 1997 2017
Entrez Id: 8546
Gene Symbol: AP3B1
AP3B1
O00203 adaptor related protein complex 3 subunit beta 1 Transporter 83 0.619 0.808 0.62 0.080 None 1.000 8 0 2006 2020
Entrez Id: 4157
Gene Symbol: MC1R
MC1R
Q01726 melanocortin 1 receptor G-protein coupled receptor 183 0.524 0.808 8.1E-11 0.040 None 1.000 4 1 2003 2017
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 0.040 None 1.000 4 0 2016 2018
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 0.040 None 1.000 4 0 2008 2019
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
O95714 HECT and RLD domain containing E3 ubiquitin protein ligase 2 143 0.568 0.692 1.00 0.030 None 1.000 3 0 2011 2017
Entrez Id: 4935
Gene Symbol: GPR143
GPR143
P51810 G protein-coupled receptor 143 G-protein coupled receptor 47 0.659 0.385 0.93 0.030 None 1.000 3 0 2010 2014
Entrez Id: 2267
Gene Symbol: FGL1
FGL1
Q08830 fibrinogen like 1 Signaling 53 0.638 0.692 1.7E-25 0.030 None 1.000 3 0 2006 2013
Entrez Id: 7031
Gene Symbol: TFF1
TFF1
P04155 trefoil factor 1 Signaling 147 0.529 0.769 8.9E-04 0.030 None 1.000 3 0 2010 2020
Entrez Id: 23682
Gene Symbol: RAB38
RAB38
P57729 RAB38, member RAS oncogene family 34 0.691 0.500 2.0E-03 0.020 None 1.000 2 0 2002 2007
Entrez Id: 1130
Gene Symbol: LYST
LYST
Q99698 lysosomal trafficking regulator 114 0.621 0.692 1.5E-02 0.020 None 1.000 2 0 2013 2015
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
RNA component of mitochondrial RNA processing endoribonuclease 239 0.519 0.731 0.010 None 1.000 1 0 2012 2012
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
P60484 phosphatase and tensin homolog Enzyme 1349 0.305 0.923 0.26 0.010 None 1.000 1 0 2017 2017
Entrez Id: 6490
Gene Symbol: PMEL
PMEL
P40967 premelanosome protein Signaling 138 0.531 0.769 3.1E-18 0.010 None 1.000 1 0 2008 2008
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
P38398 BRCA1 DNA repair associated Enzyme 747 0.367 0.923 9.2E-29 0.010 None 1.000 1 1 2017 2017
Entrez Id: 673
Gene Symbol: BRAF
BRAF
P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1228 0.319 0.846 1.00 0.010 None 1.000 1 0 2017 2017
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
P51587 BRCA2 DNA repair associated Nucleic acid binding 656 0.379 0.846 2.4E-25 0.010 None 1.000 1 0 2017 2017
Entrez Id: 7026
Gene Symbol: NR2F2
NR2F2
P24468 nuclear receptor subfamily 2 group F member 2 Nuclear receptor 110 0.575 0.692 0.99 0.010 None 1.000 1 0 2008 2008
Entrez Id: 84062
Gene Symbol: DTNBP1
DTNBP1
Q96EV8 dystrobrevin binding protein 1 93 0.588 0.615 6.8E-06 0.010 None 1.000 1 0 2017 2017