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: 8622
Gene Symbol: PDE8B
PDE8B 		O95263 phosphodiesterase 8B 89 0.638 0.500 1.00 0.400 None 1.000 1 0 2010 2010
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		O15118 NPC intracellular cholesterol transporter 1 Transporter 220 0.518 0.692 6.5E-06 0.400 None 1.000 1 0 2011 2011
Entrez Id: 1356
Gene Symbol: CP
CP 		P00450 ceruloplasmin Enzyme 283 0.466 0.846 4.2E-10 0.130 None 1.000 3 0 1996 2018
Entrez Id: 80025
Gene Symbol: PANK2
PANK2 		Q9BZ23 pantothenate kinase 2 Kinase 171 0.559 0.808 7.4E-07 0.130 None 1.000 3 1 2004 2018
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		P49768 presenilin 1 Enzyme 369 0.469 0.846 0.97 0.130 None 1.000 3 1 2004 2008
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		P08034 gap junction protein beta 1 Cell-cell junction 224 0.514 0.731 0.85 0.110 None 1.000 1 0 2008 2008
Entrez Id: 93986
Gene Symbol: FOXP2
FOXP2 		O15409 forkhead box P2 165 0.545 0.808 1.00 0.110 None 1.000 1 0 2013 2013
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1 		P43699 NK2 homeobox 1 Transcription factor 319 0.457 0.808 0.36 0.110 None 1.000 1 0 2004 2004
Entrez Id: 5428
Gene Symbol: POLG
POLG 		P54098 DNA polymerase gamma, catalytic subunit Enzyme 462 0.457 0.846 2.1E-09 0.110 None 1.000 1 0 2015 2015
Entrez Id: 6611
Gene Symbol: SMS
SMS 		P52788 spermine synthase 263 0.491 0.846 0.97 0.110 None 1.000 1 0 2013 2013
Entrez Id: 3708
Gene Symbol: ITPR1
ITPR1 		Q14643 inositol 1,4,5-trisphosphate receptor type 1 Ion channel 185 0.534 0.846 1.00 0.110 None 1.000 1 0 2011 2011
Entrez Id: 2395
Gene Symbol: FXN
FXN 		Q16595 frataxin Enzyme 220 0.510 0.654 0.34 0.110 None 1.000 1 2 1999 1999
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A 		Q12879 glutamate ionotropic receptor NMDA type subunit 2A Ion channel 212 0.522 0.808 1.00 0.110 None < 0.001 1 0 2015 2015
Entrez Id: 29978
Gene Symbol: UBQLN2
UBQLN2 		Q9UHD9 ubiquilin 2 59 0.656 0.462 0.85 0.110 None 1.000 1 0 2013 2013
Entrez Id: 9213
Gene Symbol: XPR1
XPR1 		Q9UBH6 xenotropic and polytropic retrovirus receptor 1 Transporter 217 0.488 0.731 1.00 0.110 None 1.000 1 0 2016 2016
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		P35222 catenin beta 1 1368 0.303 0.885 1.00 0.100 None 1.000 3 1 1989 2017
Entrez Id: 253738
Gene Symbol: EBF3
EBF3 		Q9H4W6 EBF transcription factor 3 124 0.595 0.731 1.00 0.100 None 1.000 1 1 2017 2017
Entrez Id: 54840
Gene Symbol: APTX
APTX 		Q7Z2E3 aprataxin Nucleic acid binding 94 0.590 0.500 4.0E-10 0.100 None 1.000 1 1 2017 2017
Entrez Id: 4541
Gene Symbol: ND6
ND6 		P03923 NADH dehydrogenase, subunit 6 (complex I) 224 0.544 0.808 0.100 None 1.000 1 1 2016 2016
Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2 		Q6ICL3 transport and golgi organization 2 homolog 83 0.666 0.615 1.5E-04 0.100 None 1.000 1 1 2016 2016
Entrez Id: 6687
Gene Symbol: SPG7
SPG7 		Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 419 0.436 0.885 2.0E-36 0.100 None 1.000 1 9 2016 2016
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12 		Q8N2K0 abhydrolase domain containing 12 Enzyme 60 0.666 0.385 1.9E-05 0.100 None 1.000 1 1 2018 2018
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A 		P04350 tubulin beta 4A class IVa Cellular structure 107 0.608 0.615 0.11 0.100 None 1.000 1 1 2014 2014
Entrez Id: 57462
Gene Symbol: MYORG
MYORG 		Q6NSJ0 myogenesis regulating glycosidase (putative) Enzyme 32 0.805 0.269 1.1E-11 0.100 None 0 0
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24 		Q9ULP9 TBC1 domain family member 24 Enzyme modulator 218 0.530 0.808 1.3E-08 0.100 None 0 0