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: 283652
Gene Symbol: SLC24A5
SLC24A5 		Q71RS6 solute carrier family 24 member 5 Transporter 25 0.760 0.308 5.2E-10 0.010 None 1.000 1 0 2012 2012
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: 4935
Gene Symbol: GPR143
GPR143 		P51810 G protein-coupled receptor 143 G-protein coupled receptor 47 0.659 0.385 0.93 0.020 None 1.000 2 0 2001 2009
Entrez Id: 79083
Gene Symbol: MLPH
MLPH 		Q9BV36 melanophilin Cellular structure 23 0.743 0.423 4.4E-10 0.020 None 1.000 2 0 2003 2004
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: 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: 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: 51151
Gene Symbol: SLC45A2
SLC45A2 		Q9UMX9 solute carrier family 45 member 2 Transporter 75 0.626 0.538 1.7E-06 0.020 None 1.000 2 0 2011 2012
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: 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: 200576
Gene Symbol: PIKFYVE
PIKFYVE 		Q9Y2I7 phosphoinositide kinase, FYVE-type zinc finger containing Kinase 27 0.722 0.577 1.1E-06 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
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3 		P28472 gamma-aminobutyric acid type A receptor subunit beta3 Ion channel 139 0.546 0.615 0.95 0.010 None 1.000 1 0 2016 2016
Entrez Id: 5903
Gene Symbol: RANBP2
RANBP2 		P49792 RAN binding protein 2 Enzyme modulator 110 0.578 0.615 1.00 0.010 None 1.000 1 0 1998 1998
Entrez Id: 1638
Gene Symbol: DCT
DCT 		P40126 dopachrome tautomerase Enzyme 59 0.619 0.654 7.4E-14 0.010 None 1.000 1 0 1998 1998
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: 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: 2267
Gene Symbol: FGL1
FGL1 		Q08830 fibrinogen like 1 Signaling 53 0.638 0.692 1.7E-25 0.010 None 1.000 1 0 2019 2019
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: 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: 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: 1186
Gene Symbol: CLCN7
CLCN7 		P51798 chloride voltage-gated channel 7 Ion channel 135 0.590 0.731 0.27 0.010 None 1.000 1 1 2019 2019
Entrez Id: 55697
Gene Symbol: VAC14
VAC14 		Q08AM6 VAC14 component of PIKFYVE complex Receptor 140 0.588 0.731 0.19 0.010 None 1.000 1 0 2019 2019
Entrez Id: 6624
Gene Symbol: FSCN1
FSCN1 		Q16658 fascin actin-bundling protein 1 Cellular structure 175 0.504 0.731 0.87 0.010 None 1.000 1 0 2013 2013