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: 3257
Gene Symbol: HPS1
HPS1
Q92902 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 64 0.636 0.692 1.3E-07 0.940 definitive 1.000 33 8 1978 2018
Entrez Id: 5873
Gene Symbol: RAB27A
RAB27A
P51159 RAB27A, member RAS oncogene family 108 0.585 0.692 3.0E-07 0.200 None 1.000 1 0 2002 2002
Entrez Id: 8943
Gene Symbol: AP3D1
AP3D1
O14617 adaptor related protein complex 3 subunit delta 1 Transporter 58 0.678 0.385 0.99 0.200 None 0 0
Entrez Id: 84062
Gene Symbol: DTNBP1
DTNBP1
Q96EV8 dystrobrevin binding protein 1 93 0.588 0.615 6.8E-06 0.100 None 0 1
Entrez Id: 1130
Gene Symbol: LYST
LYST
Q99698 lysosomal trafficking regulator 114 0.621 0.692 1.5E-02 0.010 None 1.000 1 0 2004 2004
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
Q04671 OCA2 melanosomal transmembrane protein 141 0.539 0.808 2.9E-13 0.010 None 1.000 1 0 2015 2015
Entrez Id: 51151
Gene Symbol: SLC45A2
SLC45A2
Q9UMX9 solute carrier family 45 member 2 Transporter 75 0.626 0.538 1.7E-06 0.010 None 1.000 1 0 2015 2015
Entrez Id: 7299
Gene Symbol: TYR
TYR
P14679 tyrosinase Enzyme 281 0.473 0.808 5.0E-32 0.010 None 1.000 1 0 2015 2015
Entrez Id: 947
Gene Symbol: CD34
CD34
P28906 CD34 molecule 674 0.368 0.808 5.0E-06 0.010 None 1.000 1 0 2016 2016