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: 538
Gene Symbol: ATP7A
ATP7A
Q04656 ATPase copper transporting alpha Transporter 348 0.494 0.769 1.00 0.320 None 1.000 4 1 2011 2017
Entrez Id: 84735
Gene Symbol: CNDP1
CNDP1
Q96KN2 carnosine dipeptidase 1 Enzyme 49 0.656 0.538 1.2E-09 0.300 None 1.000 1 0 1972 1972
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
P51649 aldehyde dehydrogenase 5 family member A1 Enzyme 83 0.619 0.462 3.1E-07 0.300 None 1.000 1 0 2018 2018
Entrez Id: 5309
Gene Symbol: PITX3
PITX3
O75364 paired like homeodomain 3 93 0.585 0.692 0.81 0.300 None 1.000 1 0 2006 2006
Entrez Id: 2668
Gene Symbol: GDNF
GDNF
P39905 glial cell derived neurotrophic factor Signaling 409 0.434 0.885 0.20 0.300 None 1.000 1 0 2010 2010
Entrez Id: 7161
Gene Symbol: TP73
TP73
O15350 tumor protein p73 Transcription factor 300 0.449 0.808 1.00 0.200 None 1.000 1 0 2013 2013
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: 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: 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: 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: 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: 6647
Gene Symbol: SOD1
SOD1
P00441 superoxide dismutase 1 Enzyme 689 0.379 0.962 0.18 0.040 None 1.000 4 1 1995 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: 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: 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: 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: 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: 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: 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