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: 1181
Gene Symbol: CLCN2
CLCN2
P51788 chloride voltage-gated channel 2 Ion channel 67 0.626 0.462 5.5E-12 0.250 None 1.000 5 0 2014 2019
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
O14802 RNA polymerase III subunit A Enzyme 219 0.538 0.769 1.3E-23 0.200 None 0.875 16 1 2011 2019
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
Q9NW08 RNA polymerase III subunit B Enzyme 71 0.628 0.654 1.7E-23 0.200 None 0.875 16 1 2011 2019
Entrez Id: 4001
Gene Symbol: LMNB1
LMNB1
P20700 lamin B1 128 0.564 0.731 0.55 0.200 None 1.000 10 0 2006 2019
Entrez Id: 57165
Gene Symbol: GJC2
GJC2
Q5T442 gap junction protein gamma 2 Cell-cell junction 115 0.593 0.692 1.0E-02 0.180 None 1.000 8 0 2010 2019
Entrez Id: 2581
Gene Symbol: GALC
GALC
P54803 galactosylceramidase 99 0.604 0.615 5.2E-15 0.150 None 1.000 5 3 2001 2018
Entrez Id: 11277
Gene Symbol: TREX1
TREX1
Q9NSU2 three prime repair exonuclease 1 241 0.517 0.808 0.58 0.150 None 1.000 5 0 2007 2017
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
P07333 colony stimulating factor 1 receptor Kinase 356 0.448 0.808 0.13 0.150 None 1.000 5 1 2012 2020
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
P04350 tubulin beta 4A class IVa Cellular structure 107 0.608 0.615 0.11 0.140 None 1.000 4 0 2014 2018
Entrez Id: 200205
Gene Symbol: IBA57
IBA57
Q5T440 iron-sulfur cluster assembly factor IBA57 63 0.666 0.423 8.4E-03 0.130 None 1.000 3 0 2015 2018
Entrez Id: 9533
Gene Symbol: POLR1C
POLR1C
O15160 RNA polymerase I and III subunit C Enzyme 86 0.595 0.615 6.3E-10 0.130 None 1.000 3 0 2015 2019
Entrez Id: 8560
Gene Symbol: DEGS1
DEGS1
O15121 delta 4-desaturase, sphingolipid 1 73 0.621 0.731 0.14 0.120 None 1.000 3 1 2016 2019
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
P31040 succinate dehydrogenase complex flavoprotein subunit A Enzyme 246 0.517 0.731 2.6E-10 0.120 None 1.000 2 2 2012 2015
Entrez Id: 1605
Gene Symbol: DAG1
DAG1
Q14118 dystroglycan 1 Receptor 230 0.498 0.808 0.98 0.120 None 1.000 2 0 2013 2018
Entrez Id: 1615
Gene Symbol: DARS1
DARS1
P14868 aspartyl-tRNA synthetase 1 Enzyme 40 0.711 0.500 8.5E-06 0.120 None 1.000 2 1 2017 2018
Entrez Id: 5917
Gene Symbol: RARS1
RARS1
P54136 arginyl-tRNA synthetase 1 94 0.604 0.538 3.3E-08 0.120 None 1.000 2 0 2018 2020
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
O43819 synthesis of cytochrome C oxidase 2 Enzyme 294 0.479 0.846 7.5E-07 0.120 None 1.000 2 0 2000 2005
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
Q15526 SURF1 cytochrome c oxidase assembly factor Enzyme 150 0.578 0.654 1.6E-13 0.120 None 1.000 2 0 2001 2009
Entrez Id: 84504
Gene Symbol: NKX6-2
NKX6-2
Q9C056 NK6 homeobox 2 Transcription factor 47 0.695 0.500 2.9E-02 0.120 None 1.000 2 0 2017 2020
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
P36021 solute carrier family 16 member 2 Transporter 108 0.592 0.577 0.99 0.120 None 1.000 2 0 2009 2015
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1
P49821 NADH:ubiquinone oxidoreductase core subunit V1 94 0.617 0.538 6.4E-11 0.120 None 1.000 2 0 2013 2018
Entrez Id: 3329
Gene Symbol: HSPD1
HSPD1
P10809 heat shock protein family D (Hsp60) member 1 398 0.432 0.808 0.99 0.120 None 1.000 2 0 2015 2016
Entrez Id: 122961
Gene Symbol: ISCA2
ISCA2
Q86U28 iron-sulfur cluster assembly 2 27 0.743 0.231 2.4E-08 0.120 None 1.000 2 0 2018 2018
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1
Q9BUE6 iron-sulfur cluster assembly 1 23 0.792 0.231 0.17 0.110 None 1.000 2 1 2017 2018
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
P02462 collagen type IV alpha 1 chain 277 0.484 0.731 1.00 0.110 None 1.000 1 1 2017 2017