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: 89781
Gene Symbol: HPS4
HPS4
Q9NQG7 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 26 0.743 0.385 1.4E-04 0.670 strong 1.000 7 11 2002 2019
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 0.650 strong 1.000 6 6 2001 2019
Entrez Id: 388552
Gene Symbol: BLOC1S3
BLOC1S3
Q6QNY0 biogenesis of lysosomal organelles complex 1 subunit 3 32 0.729 0.385 4.1E-03 0.620 strong 1.000 2 1 2006 2012
Entrez Id: 84062
Gene Symbol: DTNBP1
DTNBP1
Q96EV8 dystrobrevin binding protein 1 93 0.588 0.615 6.8E-06 0.610 strong 1.000 2 2 2003 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 0.610 strong 1.000 2 4 2017 2019
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 0.610 strong 1.000 2 8 2018 2019
Entrez Id: 26258
Gene Symbol: BLOC1S6
BLOC1S6
Q9UL45 biogenesis of lysosomal organelles complex 1 subunit 6 15 0.769 0.308 8.0E-09 0.610 strong 1.000 1 1 2011 2011
Entrez Id: 8943
Gene Symbol: AP3D1
AP3D1
O14617 adaptor related protein complex 3 subunit delta 1 Transporter 58 0.678 0.385 0.99 0.530 limited 1.000 3 0 2009 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 0.500 None 1.000 32 22 1996 2019
Entrez Id: 8546
Gene Symbol: AP3B1
AP3B1
O00203 adaptor related protein complex 3 subunit beta 1 Transporter 83 0.619 0.808 0.62 0.500 strong 0.963 27 4 1997 2020
Entrez Id: 23682
Gene Symbol: RAB38
RAB38
P57729 RAB38, member RAS oncogene family 34 0.691 0.500 2.0E-03 0.260 None 1.000 6 0 2007 2019
Entrez Id: 63915
Gene Symbol: BLOC1S5
BLOC1S5
Q8TDH9 biogenesis of lysosomal organelles complex 1 subunit 5 3 0.890 0.231 2.9E-09 0.210 None 1.000 1 0 2015 2015
Entrez Id: 55330
Gene Symbol: BLOC1S4
BLOC1S4
Q9NUP1 biogenesis of lysosomal organelles complex 1 subunit 4 5 0.890 0.308 0.10 0.210 None 1.000 1 0 2000 2000
Entrez Id: 65082
Gene Symbol: VPS33A
VPS33A
Q96AX1 VPS33A core subunit of CORVET and HOPS complexes Transporter 45 0.695 0.538 0.18 0.210 None 1.000 1 0 2003 2003
Entrez Id: 79036
Gene Symbol: KXD1
KXD1
Q9BQD3 KxDL motif containing 1 1 1.000 0.192 3.5E-02 0.200 None 0 0
Entrez Id: 5875
Gene Symbol: RABGGTA
RABGGTA
Q92696 Rab geranylgeranyltransferase subunit alpha Enzyme 3 0.890 0.269 1.8E-10 0.200 None 0 0
Entrez Id: 23657
Gene Symbol: SLC7A11
SLC7A11
Q9UPY5 solute carrier family 7 member 11 Transporter 72 0.603 0.692 5.7E-05 0.200 None 0 0
Entrez Id: 7031
Gene Symbol: TFF1
TFF1
P04155 trefoil factor 1 Signaling 147 0.529 0.769 8.9E-04 0.100 None 0.917 12 0 2000 2020
Entrez Id: 57787
Gene Symbol: MARK4
MARK4
Q96L34 microtubule affinity regulating kinase 4 Kinase 73 0.641 0.615 1.00 0.100 None 0 1
Entrez Id: 1356
Gene Symbol: CP
CP
P00450 ceruloplasmin Enzyme 283 0.466 0.846 4.2E-10 0.100 None 0 3
Entrez Id: 2267
Gene Symbol: FGL1
FGL1
Q08830 fibrinogen like 1 Signaling 53 0.638 0.692 1.7E-25 0.080 None 1.000 8 0 1997 2019
Entrez Id: 10981
Gene Symbol: RAB32
RAB32
Q13637 RAB32, member RAS oncogene family 23 0.711 0.462 6.5E-04 0.030 None 1.000 3 0 2012 2019
Entrez Id: 7299
Gene Symbol: TYR
TYR
P14679 tyrosinase Enzyme 281 0.473 0.808 5.0E-32 0.030 None 1.000 3 0 1999 2019
Entrez Id: 7306
Gene Symbol: TYRP1
TYRP1
P17643 tyrosinase related protein 1 Enzyme 200 0.507 0.846 6.6E-25 0.030 None 1.000 3 0 1999 2009
Entrez Id: 967
Gene Symbol: CD63
CD63
P08962 CD63 molecule 128 0.542 0.731 1.7E-02 0.030 None 1.000 3 0 1998 2019