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: 146167
Gene Symbol: SLC38A8
SLC38A8 		A6NNN8 solute carrier family 38 member 8 Transporter 19 0.743 0.269 3.3E-24 0.010 None 1.000 1 0 2019 2019
Entrez Id: 283652
Gene Symbol: SLC24A5
SLC24A5 		Q71RS6 solute carrier family 24 member 5 Transporter 25 0.760 0.308 5.2E-10 0.210 None 1.000 2 0 2008 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 0.110 None 1.000 1 0 2016 2016
Entrez Id: 26258
Gene Symbol: BLOC1S6
BLOC1S6 		Q9UL45 biogenesis of lysosomal organelles complex 1 subunit 6 15 0.769 0.308 8.0E-09 0.100 None 0 0
Entrez Id: 4935
Gene Symbol: GPR143
GPR143 		P51810 G protein-coupled receptor 143 G-protein coupled receptor 47 0.659 0.385 0.93 0.400 None 1.000 22 1 2000 2017
Entrez Id: 357
Gene Symbol: SHROOM2
SHROOM2 		Q13796 shroom family member 2 21 0.729 0.385 2.9E-03 0.010 None 1.000 1 0 2014 2014
Entrez Id: 4412
Gene Symbol: MRX49
MRX49 		mental retardation, X-linked 49 7 0.821 0.385 0.010 None 1.000 1 0 2008 2008
Entrez Id: 8943
Gene Symbol: AP3D1
AP3D1 		O14617 adaptor related protein complex 3 subunit delta 1 Transporter 58 0.678 0.385 0.99 0.400 None 1.000 1 0 2016 2016
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: 89781
Gene Symbol: HPS4
HPS4 		Q9NQG7 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 26 0.743 0.385 1.4E-04 0.100 None 0 0
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 0.100 None 0 0
Entrez Id: 90167
Gene Symbol: FRMD7
FRMD7 		Q6ZUT3 FERM domain containing 7 31 0.682 0.462 0.73 0.010 None 1.000 1 0 2019 2019
Entrez Id: 51151
Gene Symbol: SLC45A2
SLC45A2 		Q9UMX9 solute carrier family 45 member 2 Transporter 75 0.626 0.538 1.7E-06 0.020 None 1.000 2 0 2008 2014
Entrez Id: 6907
Gene Symbol: TBL1X
TBL1X 		O60907 transducin beta like 1 X-linked 34 0.674 0.538 0.98 0.020 None 0.500 2 0 2014 2018
Entrez Id: 22862
Gene Symbol: FNDC3A
FNDC3A 		Q9Y2H6 fibronectin type III domain containing 3A 35 0.674 0.577 1.00 0.010 None 1.000 1 0 2006 2006
Entrez Id: 23203
Gene Symbol: PMPCA
PMPCA 		Q10713 peptidase, mitochondrial processing subunit alpha Enzyme 83 0.633 0.577 3.4E-11 0.100 None 0 0
Entrez Id: 2773
Gene Symbol: GNAI3
GNAI3 		P08754 G protein subunit alpha i3 Enzyme modulator 75 0.653 0.615 3.8E-02 0.310 limited 1.000 1 0 2016 2016
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: 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 2006 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 2006 2006
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 0.010 None 1.000 1 0 2011 2011
Entrez Id: 1130
Gene Symbol: LYST
LYST 		Q99698 lysosomal trafficking regulator 114 0.621 0.692 1.5E-02 0.100 None 0 0
Entrez Id: 2563
Gene Symbol: GABRD
GABRD 		O14764 gamma-aminobutyric acid type A receptor subunit delta Ion channel 154 0.558 0.692 0.99 0.100 None 0 0
Entrez Id: 8514
Gene Symbol: KCNAB2
KCNAB2 		Q13303 potassium voltage-gated channel subfamily A regulatory beta subunit 2 Ion channel 111 0.593 0.692 0.80 0.100 None 0 0
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		P78363 ATP binding cassette subfamily A member 4 Transporter 227 0.493 0.769 5.3E-48 0.010 None 1.000 1 0 2018 2018