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: 5009
Gene Symbol: OTC
OTC
P00480 ornithine carbamoyltransferase 135 0.565 0.846 0.87 0.500 None 1.000 46 2 1975 2019
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
P31327 carbamoyl-phosphate synthase 1 Enzyme 133 0.590 0.615 1.1E-09 0.500 None 0.957 23 2 1993 2019
Entrez Id: 162417
Gene Symbol: NAGS
NAGS
Q8N159 N-acetylglutamate synthase 58 0.716 0.423 4.0E-08 0.500 None 1.000 13 0 2002 2019
Entrez Id: 2746
Gene Symbol: GLUD1
GLUD1
P00367 glutamate dehydrogenase 1 Enzyme 86 0.584 0.731 7.0E-03 0.400 None 1.000 12 1 1998 2019
Entrez Id: 445
Gene Symbol: ASS1
ASS1
P00966 argininosuccinate synthase 1 Enzyme 163 0.523 0.731 1.5E-09 0.380 None 1.000 9 0 1999 2019
Entrez Id: 2752
Gene Symbol: GLUL
GLUL
P15104 glutamate-ammonia ligase Enzyme 200 0.513 0.731 1.00 0.180 None 1.000 8 0 2011 2020
Entrez Id: 383
Gene Symbol: ARG1
ARG1
P05089 arginase 1 Enzyme 273 0.476 0.846 3.6E-04 0.150 None 1.000 5 0 2013 2019
Entrez Id: 10166
Gene Symbol: SLC25A15
SLC25A15
Q9Y619 solute carrier family 25 member 15 Transporter 54 0.711 0.346 3.7E-07 0.130 None 1.000 3 0 1999 2004
Entrez Id: 435
Gene Symbol: ASL
ASL
P04424 argininosuccinate lyase Enzyme 99 0.593 0.731 8.6E-10 0.130 None 1.000 3 1 2001 2018
Entrez Id: 2645
Gene Symbol: GCK
GCK
P35557 glucokinase Kinase 210 0.523 0.808 0.63 0.030 None 1.000 3 0 2003 2006
Entrez Id: 2891
Gene Symbol: GRIA2
GRIA2
P42262 glutamate ionotropic receptor AMPA type subunit 2 Ion channel 110 0.573 0.692 1.00 0.020 None 1.000 2 0 2018 2018
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
P41235 hepatocyte nuclear factor 4 alpha Nuclear receptor 340 0.461 0.808 0.15 0.020 None 1.000 2 0 2010 2013
Entrez Id: 7124
Gene Symbol: TNF
TNF
P01375 tumor necrosis factor Signaling 2724 0.231 0.962 0.80 0.020 None 1.000 2 0 2017 2018
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13
Q9UJS0 solute carrier family 25 member 13 Transporter 109 0.617 0.500 1.3E-24 0.120 None 1.000 2 0 2006 2018
Entrez Id: 2660
Gene Symbol: MSTN
MSTN
O14793 myostatin Signaling 159 0.528 0.731 0.51 0.020 None 1.000 2 0 2013 2018
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
P35222 catenin beta 1 1368 0.303 0.885 1.00 0.020 None 1.000 2 0 2017 2019
Entrez Id: 7942
Gene Symbol: TFEB
TFEB
P19484 transcription factor EB 150 0.527 0.731 0.90 0.020 None 1.000 2 0 2018 2018
Entrez Id: 4942
Gene Symbol: OAT
OAT
P04181 ornithine aminotransferase Enzyme 92 0.593 0.731 7.7E-07 0.020 None 1.000 2 0 2008 2018
Entrez Id: 2890
Gene Symbol: GRIA1
GRIA1
P42261 glutamate ionotropic receptor AMPA type subunit 1 Ion channel 126 0.570 0.577 1.00 0.020 None 1.000 2 0 2018 2018
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D
P30049 ATP synthase F1 subunit delta Transporter 69 0.674 0.500 7.4E-02 0.110 None 1.000 1 0 2018 2018
Entrez Id: 5428
Gene Symbol: POLG
POLG
P54098 DNA polymerase gamma, catalytic subunit Enzyme 462 0.457 0.846 2.1E-09 0.010 None 1.000 1 0 2019 2019
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: 5091
Gene Symbol: PC
PC
P11498 pyruvate carboxylase Enzyme 183 0.515 0.808 1.4E-02 0.010 None 1.000 1 0 2019 2019
Entrez Id: 50617
Gene Symbol: ATP6V0A4
ATP6V0A4
Q9HBG4 ATPase H+ transporting V0 subunit a4 Transporter 21 0.722 0.385 2.2E-20 0.010 None 1.000 1 0 2010 2010
Entrez Id: 4967
Gene Symbol: OGDH
OGDH
Q02218 oxoglutarate dehydrogenase 55 0.653 0.538 1.00 0.010 None 1.000 1 0 1996 1996