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: 8328
Gene Symbol: GFI1B
GFI1B
Q5VTD9 growth factor independent 1B transcriptional repressor 76 0.623 0.500 5.2E-04 0.410 None 1.000 1 1 2017 2017
Entrez Id: 26258
Gene Symbol: BLOC1S6
BLOC1S6
Q9UL45 biogenesis of lysosomal organelles complex 1 subunit 6 15 0.769 0.308 8.0E-09 0.220 None 1.000 14 0 1971 2017
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 0.210 None 1.000 13 0 1978 2008
Entrez Id: 8546
Gene Symbol: AP3B1
AP3B1
O00203 adaptor related protein complex 3 subunit beta 1 Transporter 83 0.619 0.808 0.62 0.210 None 1.000 10 0 1981 2020
Entrez Id: 8943
Gene Symbol: AP3D1
AP3D1
O14617 adaptor related protein complex 3 subunit delta 1 Transporter 58 0.678 0.385 0.99 0.210 None 1.000 5 0 1975 2016
Entrez Id: 5873
Gene Symbol: RAB27A
RAB27A
P51159 RAB27A, member RAS oncogene family 108 0.585 0.692 3.0E-07 0.210 None 1.000 5 0 1997 2001
Entrez Id: 84062
Gene Symbol: DTNBP1
DTNBP1
Q96EV8 dystrobrevin binding protein 1 93 0.588 0.615 6.8E-06 0.210 None 1.000 3 0 1991 2017
Entrez Id: 5874
Gene Symbol: RAB27B
RAB27B
O00194 RAB27B, member RAS oncogene family 64 0.608 0.692 3.9E-02 0.210 None 1.000 2 0 1997 2007
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 0.200 None 1.000 8 0 1978 2002
Entrez Id: 63915
Gene Symbol: BLOC1S5
BLOC1S5
Q8TDH9 biogenesis of lysosomal organelles complex 1 subunit 5 3 0.890 0.231 2.9E-09 0.200 None 1.000 5 0 1969 2004
Entrez Id: 1130
Gene Symbol: LYST
LYST
Q99698 lysosomal trafficking regulator 114 0.621 0.692 1.5E-02 0.200 None 1.000 5 0 1984 2009
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 0.200 None 1.000 3 0 1980 1990
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 0.200 None 1.000 3 0 1988 2002
Entrez Id: 85440
Gene Symbol: DOCK7
DOCK7
Q96N67 dedicator of cytokinesis 7 Enzyme modulator 51 0.682 0.423 6.4E-06 0.200 None 1.000 2 0 1998 1998
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 1.000 1 0 1996 1996
Entrez Id: 3239
Gene Symbol: HOXD13
HOXD13
P35453 homeobox D13 259 0.483 0.808 8.6E-03 0.030 None 1.000 3 0 1983 2007
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
Q01196 RUNX family transcription factor 1 Transcription factor 412 0.425 0.808 0.65 0.020 None 1.000 2 0 2004 2017
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: 2159
Gene Symbol: F10
F10
P00742 coagulation factor X Enzyme 228 0.493 0.769 2.3E-06 0.010 None 1.000 1 0 1986 1986
Entrez Id: 7031
Gene Symbol: TFF1
TFF1
P04155 trefoil factor 1 Signaling 147 0.529 0.769 8.9E-04 0.010 None 1.000 1 0 2020 2020
Entrez Id: 25824
Gene Symbol: PRDX5
PRDX5
P30044 peroxiredoxin 5 153 0.522 0.808 1.8E-04 0.010 None 1.000 1 0 1993 1993
Entrez Id: 10257
Gene Symbol: ABCC4
ABCC4
O15439 ATP binding cassette subfamily C member 4 Transporter 146 0.536 0.769 1.1E-07 0.010 None 1.000 1 0 2010 2010