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: 27010
Gene Symbol: TPK1
TPK1
Q9H3S4 thiamin pyrophosphokinase 1 Kinase 21 0.792 0.269 9.1E-02 0.400 limited 1.000 1 0 2017 2017
Entrez Id: 57462
Gene Symbol: MYORG
MYORG
Q6NSJ0 myogenesis regulating glycosidase (putative) Enzyme 32 0.805 0.269 1.1E-11 0.400 strong 1.000 1 0 2019 2019
Entrez Id: 644096
Gene Symbol: SDHAF1
SDHAF1
A6NFY7 succinate dehydrogenase complex assembly factor 1 88 0.656 0.462 8.7E-02 0.400 limited 1.000 1 0 2013 2013
Entrez Id: 549
Gene Symbol: AUH
AUH
Q13825 AU RNA binding methylglutaconyl-CoA hydratase Enzyme 42 0.686 0.346 8.0E-06 0.400 None 1.000 1 0 2010 2010
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1
Q8TCS8 polyribonucleotide nucleotidyltransferase 1 Enzyme 64 0.653 0.462 4.0E-04 0.400 limited 1.000 1 0 2012 2012
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
P60201 proteolipid protein 1 Cellular structure 160 0.543 0.769 0.93 0.400 None 1.000 1 0 2000 2000
Entrez Id: 11277
Gene Symbol: TREX1
TREX1
Q9NSU2 three prime repair exonuclease 1 241 0.517 0.808 0.58 0.400 limited 1.000 1 0 2014 2014
Entrez Id: 10535
Gene Symbol: RNASEH2A
RNASEH2A
O75792 ribonuclease H2 subunit A Enzyme 116 0.592 0.692 4.2E-03 0.400 limited 1.000 1 0 2006 2006
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2
Q9Y4W6 AFG3 like matrix AAA peptidase subunit 2 Enzyme 123 0.588 0.462 5.3E-09 0.400 strong 0 0
Entrez Id: 55572
Gene Symbol: FOXRED1
FOXRED1
Q96CU9 FAD dependent oxidoreductase domain containing 1 Enzyme 91 0.633 0.462 2.0E-16 0.400 limited 0 0
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 175 0.537 0.654 1.00 0.400 None 0 0
Entrez Id: 54676
Gene Symbol: GTPBP2
GTPBP2
Q9BX10 GTP binding protein 2 Enzyme 44 0.736 0.423 0.32 0.400 strong 0 0
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
P39210 mitochondrial inner membrane protein MPV17 Receptor 134 0.595 0.577 9.7E-11 0.400 limited 0 0
Entrez Id: 27249
Gene Symbol: MMADHC
MMADHC
Q9H3L0 metabolism of cobalamin associated D 36 0.751 0.385 2.1E-05 0.400 limited 0 0
Entrez Id: 124454
Gene Symbol: EARS2
EARS2
Q5JPH6 glutamyl-tRNA synthetase 2, mitochondrial Enzyme 47 0.666 0.538 1.1E-08 0.400 limited 0 0
Entrez Id: 410
Gene Symbol: ARSA
ARSA
P15289 arylsulfatase A Enzyme 376 0.448 0.923 1.1E-11 0.400 None 0 0
Entrez Id: 63982
Gene Symbol: ANO3
ANO3
Q9BYT9 anoctamin 3 37 0.716 0.385 1.2E-17 0.360 None 1.000 6 0 2012 2019
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
Q9ULV3 CDKN1A interacting zinc finger protein 1 80 0.617 0.500 6.3E-02 0.340 None 0.800 5 0 2013 2018
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
P12111 collagen type VI alpha 3 chain Receptor 156 0.563 0.769 1.8E-20 0.340 None 1.000 4 0 2016 2018
Entrez Id: 60
Gene Symbol: ACTB
ACTB
P60709 actin beta Cellular structure 1110 0.325 0.923 0.99 0.320 None 1.000 2 1 2006 2018
Entrez Id: 1356
Gene Symbol: CP
CP
P00450 ceruloplasmin Enzyme 283 0.466 0.846 4.2E-10 0.310 None 1.000 2 0 1987 2006
Entrez Id: 6342
Gene Symbol: SCP2
SCP2
P22307 sterol carrier protein 2 50 0.644 0.500 8.7E-07 0.310 None 1.000 1 0 2006 2006
Entrez Id: 54209
Gene Symbol: TREM2
TREM2
Q9NZC2 triggering receptor expressed on myeloid cells 2 239 0.519 0.769 3.3E-09 0.300 None 1.000 2 0 2005 2016
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2
P56377 adaptor related protein complex 1 subunit sigma 2 Transporter 93 0.631 0.615 0.87 0.300 None 1.000 2 0 2008 2014
Entrez Id: 1644
Gene Symbol: DDC
DDC
P20711 dopa decarboxylase 164 0.535 0.769 3.8E-08 0.300 None 1.000 2 0 2009 2014