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 0.100 None 1.000 34 1 1997 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 0.100 None 1.000 22 0 1997 2019
Entrez Id: 2267
Gene Symbol: FGL1
FGL1
Q08830 fibrinogen like 1 Signaling 53 0.638 0.692 1.7E-25 0.100 None 1.000 13 0 1997 2019
Entrez Id: 7031
Gene Symbol: TFF1
TFF1
P04155 trefoil factor 1 Signaling 147 0.529 0.769 8.9E-04 0.080 None 1.000 8 0 2001 2019
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 0.070 None 1.000 7 1 2002 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 0.050 None 1.000 5 0 2013 2018
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 0.050 None 1.000 5 0 2001 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 0.040 None 1.000 4 0 2004 2016
Entrez Id: 84062
Gene Symbol: DTNBP1
DTNBP1
Q96EV8 dystrobrevin binding protein 1 93 0.588 0.615 6.8E-06 0.030 None 1.000 3 0 2003 2004
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 2017
Entrez Id: 1116
Gene Symbol: CHI3L1
CHI3L1
P36222 chitinase 3 like 1 420 0.419 0.885 1.1E-05 0.030 None 0.667 3 0 2015 2019
Entrez Id: 7124
Gene Symbol: TNF
TNF
P01375 tumor necrosis factor Signaling 2724 0.231 0.962 0.80 0.030 None 1.000 3 0 2000 2006
Entrez Id: 3586
Gene Symbol: IL10
IL10
P22301 interleukin 10 1679 0.281 0.923 5.9E-03 0.030 None 1.000 3 0 2000 2017
Entrez Id: 29126
Gene Symbol: CD274
CD274
Q9NZQ7 CD274 molecule Receptor 1011 0.324 0.923 1.9E-02 0.020 None 1.000 2 0 2018 2019
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
P15692 vascular endothelial growth factor A Signaling 1899 0.266 0.923 2.4E-05 0.020 None 1.000 2 0 2010 2012
Entrez Id: 3569
Gene Symbol: IL6
IL6
P05231 interleukin 6 2367 0.248 0.962 0.32 0.020 None 1.000 2 0 2000 2014
Entrez Id: 3458
Gene Symbol: IFNG
IFNG
P01579 interferon gamma 1519 0.288 0.962 0.47 0.020 None 0.500 2 0 1999 2018
Entrez Id: 4080
Gene Symbol: MAA
MAA
microphthalmia or anophthalmia and associated anomalies 37 0.666 0.577 0.020 None 1.000 2 0 2017 2019
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
Q9UIF7 mutY DNA glycosylase Enzyme 156 0.521 0.769 1.3E-18 0.020 None 1.000 2 0 2006 2008
Entrez Id: 5097
Gene Symbol: PCDH1
PCDH1
Q08174 protocadherin 1 11 0.769 0.308 1.00 0.020 None 1.000 2 0 2018 2019
Entrez Id: 5743
Gene Symbol: PTGS2
PTGS2
P35354 prostaglandin-endoperoxide synthase 2 Enzyme 1234 0.314 0.962 1.00 0.020 None 1.000 2 0 2017 2019
Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
P05121 serpin family E member 1 Enzyme modulator 770 0.359 0.885 4.4E-02 0.020 None 1.000 2 0 2012 2019
Entrez Id: 4313
Gene Symbol: MMP2
MMP2
P08253 matrix metallopeptidase 2 Enzyme 1021 0.333 0.923 0.84 0.020 None 1.000 2 1 2018 2019
Entrez Id: 9260
Gene Symbol: PDLIM7
PDLIM7
Q9NR12 PDZ and LIM domain 7 Cellular structure 241 0.474 0.808 0.71 0.020 None 1.000 2 0 2005 2008
Entrez Id: 388552
Gene Symbol: BLOC1S3
BLOC1S3
Q6QNY0 biogenesis of lysosomal organelles complex 1 subunit 3 32 0.729 0.385 4.1E-03 0.020 None 0.500 2 0 2006 2019