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: 56914
Gene Symbol: OTOR
OTOR 		Q9NRC9 otoraplin 22 0.805 0.154 4.9E-03 0.010 None 1.000 1 0 2019 2019
Entrez Id: 10235
Gene Symbol: RASGRP2
RASGRP2 		Q7LDG7 RAS guanyl releasing protein 2 Enzyme modulator 18 0.769 0.231 0.24 0.050 None 1.000 5 0 2016 2020
Entrez Id: 90411
Gene Symbol: MCFD2
MCFD2 		Q8NI22 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit Transporter 27 0.716 0.269 0.10 0.060 None 1.000 6 0 2005 2013
Entrez Id: 11037
Gene Symbol: STON1
STON1 		Q9Y6Q2 stonin 1 Extracellular structure 27 0.729 0.308 1.5E-11 0.010 None 1.000 1 0 2018 2018
Entrez Id: 22852
Gene Symbol: ANKRD26
ANKRD26 		Q9UPS8 ankyrin repeat domain 26 41 0.711 0.308 3.6E-24 0.010 None 1.000 1 0 2011 2011
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 0.010 None 1.000 1 0 2016 2016
Entrez Id: 90338
Gene Symbol: ZNF160
ZNF160 		Q9HCG1 zinc finger protein 160 12 0.805 0.346 2.8E-02 0.010 None 1.000 1 0 2004 2004
Entrez Id: 10166
Gene Symbol: SLC25A15
SLC25A15 		Q9Y619 solute carrier family 25 member 15 Transporter 54 0.711 0.346 3.7E-07 0.100 None 0 0
Entrez Id: 11036
Gene Symbol: GTF2A1L
GTF2A1L 		Q9UNN4 general transcription factor IIA subunit 1 like Transcription factor 37 0.678 0.385 2.8E-11 0.010 None 1.000 1 0 2018 2018
Entrez Id: 286749
Gene Symbol: STON1-GTF2A1L
STON1-GTF2A1L 		Q9Y6Q2 STON1-GTF2A1L readthrough 40 0.682 0.385 1.5E-22 0.010 None 1.000 1 0 2018 2018
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 0.010 None 1.000 1 0 2009 2009
Entrez Id: 55687
Gene Symbol: TRMU
TRMU 		O75648 tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase 50 0.716 0.385 1.5E-16 0.100 None 0 0
Entrez Id: 6718
Gene Symbol: AKR1D1
AKR1D1 		P51857 aldo-keto reductase family 1 member D1 Enzyme 40 0.711 0.385 1.7E-07 0.100 None 0 0
Entrez Id: 80270
Gene Symbol: HSD3B7
HSD3B7 		Q9H2F3 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 Enzyme 42 0.700 0.385 2.7E-08 0.100 None 0 0
Entrez Id: 84947
Gene Symbol: SERAC1
SERAC1 		Q96JX3 serine active site containing 1 55 0.686 0.385 3.9E-06 0.100 None 0 0
Entrez Id: 3998
Gene Symbol: LMAN1
LMAN1 		P49257 lectin, mannose binding 1 Transporter 30 0.716 0.423 4.3E-03 0.080 None 1.000 8 0 1999 2013
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 0.010 None 1.000 1 0 2018 2018
Entrez Id: 4237
Gene Symbol: MFAP2
MFAP2 		P55001 microfibril associated protein 2 22 0.769 0.423 4.3E-06 0.010 None 1.000 1 0 2008 2008
Entrez Id: 6748
Gene Symbol: SSR4
SSR4 		P51571 signal sequence receptor subunit 4 32 0.705 0.423 0.87 0.100 None 0 0
Entrez Id: 50808
Gene Symbol: AK3
AK3 		Q9UIJ7 adenylate kinase 3 Kinase 32 0.691 0.462 1.1E-04 0.060 None 1.000 6 0 2006 2017
Entrez Id: 2815
Gene Symbol: GP9
GP9 		P14770 glycoprotein IX platelet 46 0.695 0.500 0.48 0.040 None 1.000 4 0 1998 2010
Entrez Id: 8328
Gene Symbol: GFI1B
GFI1B 		Q5VTD9 growth factor independent 1B transcriptional repressor 76 0.623 0.500 5.2E-04 0.030 None 1.000 3 0 2013 2019
Entrez Id: 54509
Gene Symbol: RHOF
RHOF 		Q9HBH0 ras homolog family member F, filopodia associated Enzyme modulator 56 0.638 0.500 1.8E-04 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5554
Gene Symbol: PRH1
PRH1 		P02810 proline rich protein HaeIII subfamily 1 41 0.659 0.500 7.2E-03 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5555
Gene Symbol: PRH2
PRH2 		P02810 proline rich protein HaeIII subfamily 2 38 0.663 0.500 1.2E-02 0.010 None 1.000 1 0 2018 2018