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: 6261
Gene Symbol: RYR1
RYR1 		P21817 ryanodine receptor 1 Ion channel 320 0.489 0.808 1.6E-29 0.140 None 1.000 4 0 2003 2013
Entrez Id: 5428
Gene Symbol: POLG
POLG 		P54098 DNA polymerase gamma, catalytic subunit Enzyme 462 0.457 0.846 2.1E-09 0.140 None 1.000 4 0 2005 2014
Entrez Id: 55605
Gene Symbol: KIF21A
KIF21A 		Q7Z4S6 kinesin family member 21A Cellular structure 48 0.653 0.423 2.9E-08 0.030 None 1.000 3 0 2008 2017
Entrez Id: 291
Gene Symbol: SLC25A4
SLC25A4 		P12235 solute carrier family 25 member 4 Transporter 160 0.568 0.692 0.45 0.020 None 1.000 2 0 2001 2003
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 2014 2017
Entrez Id: 1890
Gene Symbol: TYMP
TYMP 		P19971 thymidine phosphorylase Enzyme 246 0.495 0.769 1.2E-04 0.020 None 1.000 2 0 2014 2017
Entrez Id: 4508
Gene Symbol: ATP6
ATP6 		P00846 ATP synthase F0 subunit 6 Transporter 226 0.541 0.731 0.010 None 1.000 1 0 2018 2018
Entrez Id: 4061
Gene Symbol: LY6E
LY6E 		Q16553 lymphocyte antigen 6 family member E 115 0.563 0.808 0.32 0.010 None 1.000 1 0 2019 2019
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1 		P01137 transforming growth factor beta 1 Signaling 1558 0.287 0.962 3.7E-02 0.010 None 1.000 1 0 2012 2012
Entrez Id: 4287
Gene Symbol: ATXN3
ATXN3 		P54252 ataxin 3 Enzyme 207 0.521 0.808 0.11 0.010 None 1.000 1 0 2000 2000
Entrez Id: 6023
Gene Symbol: RMRP
RMRP 		RNA component of mitochondrial RNA processing endoribonuclease 239 0.519 0.731 0.010 None 1.000 1 0 2001 2001
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		P68133 actin alpha 1, skeletal muscle Cellular structure 217 0.540 0.769 1.1E-06 0.110 None 1.000 1 0 2004 2004
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1 		P49821 NADH:ubiquinone oxidoreductase core subunit V1 94 0.617 0.538 6.4E-11 0.110 None 1.000 1 0 2007 2007
Entrez Id: 92667
Gene Symbol: MGME1
MGME1 		Q9BQP7 mitochondrial genome maintenance exonuclease 1 52 0.695 0.423 1.8E-03 0.300 None 1.000 1 0 2013 2013
Entrez Id: 4568
Gene Symbol: TRNL2
TRNL2 		tRNA 24 0.760 0.385 0.010 None 1.000 1 0 2017 2017
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65 		Q9H3J6 chromosome 12 open reading frame 65 Nucleic acid binding 65 0.678 0.346 0.21 0.110 None 1.000 1 0 2013 2013
Entrez Id: 2259
Gene Symbol: FGF14
FGF14 		Q92915 fibroblast growth factor 14 Signaling 90 0.619 0.692 0.91 0.010 None 1.000 1 0 2005 2005
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		Q99700 ataxin 2 Nucleic acid binding 341 0.482 0.808 0.85 0.110 None 1.000 1 0 2019 2019
Entrez Id: 7415
Gene Symbol: VCP
VCP 		P55072 valosin containing protein 376 0.469 0.923 1.00 0.010 None 1.000 1 0 2019 2019
Entrez Id: 9701
Gene Symbol: PPP6R2
PPP6R2 		O75170 protein phosphatase 6 regulatory subunit 2 Enzyme modulator 31 0.722 0.462 0.16 0.010 None 1.000 1 0 2019 2019
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		O15118 NPC intracellular cholesterol transporter 1 Transporter 220 0.518 0.692 6.5E-06 0.300 None 1.000 1 0 2011 2011
Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1 		O95672 endothelin converting enzyme like 1 Enzyme 60 0.638 0.308 4.8E-13 0.010 None 1.000 1 0 2014 2014
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2 		P23942 peripherin 2 152 0.551 0.500 0.12 0.100 None 0 0
Entrez Id: 583
Gene Symbol: BBS2
BBS2 		Q9BXC9 Bardet-Biedl syndrome 2 128 0.565 0.654 1.0E-17 0.100 None 0 0
Entrez Id: 5949
Gene Symbol: RBP3
RBP3 		P10745 retinol binding protein 3 73 0.621 0.500 1.1E-04 0.100 None 0 0