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: 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: 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: 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: 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: 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: 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: 101926885
Gene Symbol: OCA5
OCA5 		oculocutaneous albinism 5 (autosomal recessive) 2 0.931 0.154 0.010 None 1.000 1 0 2017 2017
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		P42771 Q8N726 cyclin dependent kinase inhibitor 2A 1314 0.300 0.885 0.39 0.010 None 1.000 1 0 2017 2017
Entrez Id: 140805
Gene Symbol: HT
HT 		Hashimoto thyroiditis 170 0.505 0.731 0.010 None 1.000 1 0 2019 2019
Entrez Id: 1440
Gene Symbol: CSF3
CSF3 		P09919 colony stimulating factor 3 687 0.377 0.885 0.38 0.010 None 1.000 1 0 2002 2002
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4 		P16410 cytotoxic T-lymphocyte associated protein 4 722 0.369 0.923 0.94 0.010 None 1.000 1 0 2017 2017
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B 		Q7Z7G8 vacuolar protein sorting 13 homolog B 158 0.579 0.769 2.5E-45 0.010 None 1.000 1 3 2015 2015
Entrez Id: 202
Gene Symbol: CRYBG1
CRYBG1 		Q9Y4K1 crystallin beta-gamma domain containing 1 22 0.743 0.462 3.5E-33 0.010 None 1.000 1 0 2004 2004
Entrez Id: 4255
Gene Symbol: MGMT
MGMT 		P16455 O-6-methylguanine-DNA methyltransferase 444 0.412 0.885 1.2E-07 0.010 None 1.000 1 1 2017 2017
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: 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: 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
Entrez Id: 92579
Gene Symbol: G6PC3
G6PC3 		Q9BUM1 glucose-6-phosphatase catalytic subunit 3 79 0.606 0.731 4.7E-06 0.010 None 1.000 1 0 2011 2011
Entrez Id: 283685
Gene Symbol: GOLGA6L2
GOLGA6L2 		Q8N9W4 golgin A6 family like 2 Cellular structure 3 0.890 0.231 1.1E-06 0.010 None 1.000 1 0 2013 2013
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: 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: 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: 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