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: 55773
Gene Symbol: TBC1D23
TBC1D23
Q9NUY8 TBC1 domain family member 23 33 0.729 0.308 1.8E-05 0.130 None 1.000 3 3 2017 2019
Entrez Id: 7443
Gene Symbol: VRK1
VRK1
Q99986 VRK serine/threonine kinase 1 Kinase 79 0.621 0.615 2.1E-03 0.080 None 1.000 8 1 2000 2019
Entrez Id: 51010
Gene Symbol: EXOSC3
EXOSC3
Q9NQT5 exosome component 3 Enzyme 84 0.610 0.692 2.4E-04 0.080 None 1.000 8 3 2012 2019
Entrez Id: 283989
Gene Symbol: TSEN54
TSEN54
Q7Z6J9 tRNA splicing endonuclease subunit 54 72 0.659 0.500 1.8E-07 0.080 None 0.750 8 0 2010 2020
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
Q5T160 arginyl-tRNA synthetase 2, mitochondrial 57 0.663 0.462 7.7E-14 0.070 None 1.000 7 1 2011 2016
Entrez Id: 9319
Gene Symbol: TRIP13
TRIP13
Q15645 thyroid hormone receptor interactor 13 136 0.559 0.654 1.00 0.040 None 1.000 4 0 2010 2016
Entrez Id: 8573
Gene Symbol: CASK
CASK
O14936 calcium/calmodulin dependent serine protein kinase Kinase 193 0.538 0.808 1.00 0.030 None 1.000 3 0 2012 2018
Entrez Id: 91137
Gene Symbol: SLC25A46
SLC25A46
Q96AG3 solute carrier family 25 member 46 Transporter 46 0.695 0.308 1.3E-05 0.020 None 1.000 2 0 2016 2018
Entrez Id: 5119
Gene Symbol: CHMP1A
CHMP1A
Q9HD42 charged multivesicular body protein 1A 43 0.695 0.500 2.9E-04 0.020 None 1.000 2 0 2012 2018
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
Q01433 adenosine monophosphate deaminase 2 Enzyme 60 0.663 0.577 4.5E-07 0.020 None 1.000 2 0 2013 2018
Entrez Id: 3674
Gene Symbol: ITGA2B
ITGA2B
P08514 integrin subunit alpha 2b 215 0.493 0.692 1.5E-16 0.010 None 1.000 1 0 2018 2018
Entrez Id: 9255
Gene Symbol: AIMP1
AIMP1
Q12904 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 Enzyme 125 0.566 0.769 3.0E-07 0.010 None < 0.001 1 1 2019 2019
Entrez Id: 11340
Gene Symbol: EXOSC8
EXOSC8
Q96B26 exosome component 8 Enzyme 22 0.736 0.269 6.9E-15 0.010 None 1.000 1 0 2016 2016
Entrez Id: 114034
Gene Symbol: TOE1
TOE1
Q96GM8 target of EGR1, exonuclease Nucleic acid binding 51 0.682 0.462 6.0E-16 0.010 None 1.000 1 0 2017 2017
Entrez Id: 80347
Gene Symbol: COASY
COASY
Q13057 Coenzyme A synthase Enzyme 125 0.551 0.654 8.1E-10 0.010 None 1.000 1 0 2018 2018
Entrez Id: 79042
Gene Symbol: TSEN34
TSEN34
Q9BSV6 tRNA splicing endonuclease subunit 34 Enzyme 30 0.722 0.346 0.36 0.010 None 1.000 1 0 2011 2011
Entrez Id: 116461
Gene Symbol: TSEN15
TSEN15
Q8WW01 tRNA splicing endonuclease subunit 15 23 0.769 0.115 0.28 0.010 None 1.000 1 0 2016 2016
Entrez Id: 7436
Gene Symbol: VLDLR
VLDLR
P98155 very low density lipoprotein receptor 143 0.558 0.692 2.0E-11 0.010 None 1.000 1 0 2013 2013
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
P51587 BRCA2 DNA repair associated Nucleic acid binding 656 0.379 0.846 2.4E-25 0.010 None 1.000 1 0 2017 2017
Entrez Id: 1736
Gene Symbol: DKC1
DKC1
O60832 dyskerin pseudouridine synthase 1 Nucleic acid binding 168 0.547 0.769 1.00 0.010 None 1.000 1 0 2016 2016
Entrez Id: 207
Gene Symbol: AKT1
AKT1
P31749 AKT serine/threonine kinase 1 Kinase 1250 0.311 0.962 0.98 0.010 None 1.000 1 0 2013 2013
Entrez Id: 55083
Gene Symbol: KIF26B
KIF26B
Q2KJY2 kinesin family member 26B Cellular structure 38 0.670 0.500 1.00 0.010 None 1.000 1 0 2018 2018
Entrez Id: 51678
Gene Symbol: MPP6
MPP6
Q9NZW5 membrane palmitoylated protein 6 Enzyme 10 0.821 0.077 0.82 0.010 None 1.000 1 0 2017 2017
Entrez Id: 27445
Gene Symbol: PCLO
PCLO
Q9Y6V0 piccolo presynaptic cytomatrix protein 59 0.656 0.577 1.00 0.010 None 1.000 1 0 2015 2015
Entrez Id: 373073
Gene Symbol: CLAM
CLAM
cerebellar atrophy with progressive microcephaly 3 0.890 0.077 0.010 None 1.000 1 0 2015 2015