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: 4204
Gene Symbol: MECP2
MECP2 		P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.100 None 1.000 10 0 2001 2018
Entrez Id: 1356
Gene Symbol: CP
CP 		P00450 ceruloplasmin Enzyme 283 0.466 0.846 4.2E-10 0.070 None 1.000 7 0 1998 2017
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		P15289 arylsulfatase A Enzyme 376 0.448 0.923 1.1E-11 0.070 None 1.000 7 0 1993 2011
Entrez Id: 3064
Gene Symbol: HTT
HTT 		P42858 huntingtin 188 0.548 0.654 1.00 0.060 None 1.000 6 0 2000 2013
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3 		Q9BYB0 SH3 and multiple ankyrin repeat domains 3 169 0.550 0.731 1.00 0.040 None 1.000 4 0 2003 2019
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		P08034 gap junction protein beta 1 Cell-cell junction 224 0.514 0.731 0.85 0.040 None 1.000 4 0 2003 2018
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		O15118 NPC intracellular cholesterol transporter 1 Transporter 220 0.518 0.692 6.5E-06 0.040 None 1.000 4 0 2007 2018
Entrez Id: 1437
Gene Symbol: CSF2
CSF2 		P04141 colony stimulating factor 2 Signaling 1028 0.330 0.962 0.83 0.040 None 1.000 4 0 2017 2019
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		Q06787 FMRP translational regulator 1 Nucleic acid binding 346 0.473 0.769 0.65 0.040 None 1.000 4 0 2004 2013
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2 		Q13753 laminin subunit gamma 2 Enzyme modulator 602 0.389 0.923 2.9E-12 0.040 None 1.000 4 0 2017 2019
Entrez Id: 7248
Gene Symbol: TSC1
TSC1 		Q92574 TSC complex subunit 1 391 0.440 0.808 1.00 0.030 None 1.000 3 0 2011 2019
Entrez Id: 5621
Gene Symbol: PRNP
PRNP 		F7VJQ1 P04156 prion protein 426 0.445 0.923 6.3E-04 0.030 None 1.000 3 0 1991 2006
Entrez Id: 11093
Gene Symbol: ADAMTS13
ADAMTS13 		Q76LX8 ADAM metallopeptidase with thrombospondin type 1 motif 13 Enzyme 229 0.496 0.769 5.1E-15 0.030 None 1.000 3 0 2013 2019
Entrez Id: 7167
Gene Symbol: TPI1
TPI1 		P60174 triosephosphate isomerase 1 Enzyme 184 0.517 0.846 3.0E-02 0.030 None 1.000 3 0 1993 2019
Entrez Id: 4340
Gene Symbol: MOG
MOG 		Q16653 myelin oligodendrocyte glycoprotein Enzyme modulator 136 0.546 0.731 0.14 0.030 None 1.000 3 0 2011 2018
Entrez Id: 5860
Gene Symbol: QDPR
QDPR 		P09417 quinoid dihydropteridine reductase Enzyme 45 0.691 0.500 1.5E-04 0.030 None 1.000 3 0 1997 2019
Entrez Id: 6908
Gene Symbol: TBP
TBP 		P20226 TATA-box binding protein Transcription factor 158 0.552 0.846 1.5E-02 0.030 None 1.000 3 0 1999 2011
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1 		P00492 hypoxanthine phosphoribosyltransferase 1 Enzyme 210 0.500 0.808 0.94 0.030 None 1.000 3 0 2000 2013
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		O15305 phosphomannomutase 2 Enzyme 214 0.535 0.769 1.4E-17 0.030 None 1.000 3 0 2017 2020
Entrez Id: 3569
Gene Symbol: IL6
IL6 		P05231 interleukin 6 2367 0.248 0.962 0.32 0.030 None 1.000 3 0 2001 2017
Entrez Id: 2395
Gene Symbol: FXN
FXN 		Q16595 frataxin Enzyme 220 0.510 0.654 0.34 0.030 None 1.000 3 0 1995 2016
Entrez Id: 472
Gene Symbol: ATM
ATM 		Q13315 ATM serine/threonine kinase Kinase 684 0.374 0.885 5.6E-47 0.030 None 1.000 3 0 2011 2014
Entrez Id: 4287
Gene Symbol: ATXN3
ATXN3 		P54252 ataxin 3 Enzyme 207 0.521 0.808 0.11 0.020 None 1.000 2 0 2005 2008
Entrez Id: 3553
Gene Symbol: IL1B
IL1B 		P01584 interleukin 1 beta 1801 0.276 0.962 0.13 0.020 None 1.000 2 0 2017 2018
Entrez Id: 361
Gene Symbol: AQP4
AQP4 		P55087 aquaporin 4 Ion channel 311 0.456 0.885 2.3E-03 0.020 None 1.000 2 0 2017 2019