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: 84720
Gene Symbol: PIGO
PIGO
Q8TEQ8 phosphatidylinositol glycan anchor biosynthesis class O 87 0.636 0.615 6.1E-11 0.020 None 1.000 2 2 2014 2017
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
Q8NI60 coenzyme Q8A Kinase 64 0.674 0.385 9.3E-11 0.010 None 1.000 1 0 2016 2016
Entrez Id: 1468
Gene Symbol: SLC25A10
SLC25A10
Q9UBX3 solute carrier family 25 member 10 Transporter 46 0.666 0.500 5.9E-10 0.110 None 1.000 1 1 2018 2018
Entrez Id: 2058
Gene Symbol: EPRS1
EPRS1
P07814 glutamyl-prolyl-tRNA synthetase 1 Enzyme 65 0.644 0.538 1.0E-09 0.010 None 1.000 1 0 2015 2015
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
Q96G97 BSCL2 lipid droplet biogenesis associated, seipin 221 0.545 0.692 1.1E-09 0.010 None 1.000 1 0 2019 2019
Entrez Id: 5428
Gene Symbol: POLG
POLG
P54098 DNA polymerase gamma, catalytic subunit Enzyme 462 0.457 0.846 2.1E-09 0.020 None 1.000 2 0 2011 2015
Entrez Id: 79641
Gene Symbol: ROGDI
ROGDI
Q9GZN7 rogdi atypical leucine zipper 61 0.663 0.462 2.6E-09 0.100 None 0 0
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
Q9UHC6 contactin associated protein 2 203 0.530 0.846 2.9E-09 0.100 None 0 0
Entrez Id: 10667
Gene Symbol: FARS2
FARS2
O95363 phenylalanyl-tRNA synthetase 2, mitochondrial Enzyme 89 0.615 0.731 9.3E-09 0.020 None 1.000 2 0 2017 2018
Entrez Id: 55163
Gene Symbol: PNPO
PNPO
Q9NVS9 pyridoxamine 5'-phosphate oxidase Enzyme 60 0.659 0.500 1.1E-08 0.110 None 1.000 1 1 2009 2009
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
Q9ULP9 TBC1 domain family member 24 Enzyme modulator 218 0.530 0.808 1.3E-08 0.150 None 1.000 5 0 2014 2019
Entrez Id: 7360
Gene Symbol: UGP2
UGP2
Q16851 UDP-glucose pyrophosphorylase 2 26 0.711 0.308 1.4E-08 0.010 None 1.000 1 0 2020 2020
Entrez Id: 7407
Gene Symbol: VARS1
VARS1
P26640 valyl-tRNA synthetase 1 36 0.711 0.500 1.8E-08 0.110 None 1.000 1 2 2019 2019
Entrez Id: 16
Gene Symbol: AARS1
AARS1
P49588 alanyl-tRNA synthetase 1 Nucleic acid binding 84 0.647 0.462 1.8E-08 0.120 None 1.000 2 0 2015 2017
Entrez Id: 5917
Gene Symbol: RARS1
RARS1
P54136 arginyl-tRNA synthetase 1 94 0.604 0.538 3.3E-08 0.010 None 1.000 1 0 2020 2020
Entrez Id: 10681
Gene Symbol: GNB5
GNB5
O14775 G protein subunit beta 5 Enzyme 29 0.736 0.308 6.4E-08 0.010 None 1.000 1 0 2019 2019
Entrez Id: 79587
Gene Symbol: CARS2
CARS2
Q9HA77 cysteinyl-tRNA synthetase 2, mitochondrial Enzyme 49 0.700 0.423 9.6E-08 0.110 None 1.000 1 0 2015 2015
Entrez Id: 3704
Gene Symbol: ITPA
ITPA
Q9BY32 inosine triphosphatase Enzyme 77 0.604 0.500 1.0E-07 0.020 None 1.000 2 0 2019 2019
Entrez Id: 64801
Gene Symbol: ARV1
ARV1
Q9H2C2 ARV1 homolog, fatty acid homeostasis modulator 57 0.691 0.423 3.6E-06 0.110 None 1.000 1 0 2016 2016
Entrez Id: 54463
Gene Symbol: RETREG1
RETREG1
Q9H6L5 reticulophagy regulator 1 89 0.623 0.538 6.4E-06 0.010 None 1.000 1 0 2019 2019
Entrez Id: 85440
Gene Symbol: DOCK7
DOCK7
Q96N67 dedicator of cytokinesis 7 Enzyme modulator 51 0.682 0.423 6.4E-06 0.110 None 1.000 1 0 2014 2014
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
P08183 ATP binding cassette subfamily B member 1 Transporter 933 0.344 0.885 1.3E-05 0.010 None 1.000 1 0 2019 2019
Entrez Id: 94005
Gene Symbol: PIGS
PIGS
Q96S52 phosphatidylinositol glycan anchor biosynthesis class S 45 0.705 0.346 1.8E-05 0.010 None 1.000 1 0 2018 2018
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
Q5JUK3 potassium sodium-activated channel subfamily T member 1 Ion channel 72 0.610 0.308 2.8E-05 0.140 None 1.000 4 0 2015 2016
Entrez Id: 5443
Gene Symbol: POMC
POMC
P01189 proopiomelanocortin 873 0.356 0.846 1.2E-04 0.010 None 1.000 1 0 2019 2019