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: 100528023
Gene Symbol: PPR1
PPR1
Photoparoxysmal response 1 19 0.729 0.423 0.010 None 1.000 1 0 2007 2007
Entrez Id: 4566
Gene Symbol: TRNK
TRNK
tRNA 135 0.608 0.577 0.010 None 1.000 1 0 2018 2018
Entrez Id: 780910
Gene Symbol: PPR2
PPR2
Photoparoxysmal response 2 2 1.000 0.038 0.010 None 1.000 1 0 2007 2007
Entrez Id: 7084
Gene Symbol: TK2
TK2
O00142 thymidine kinase 2 Kinase 143 0.585 0.615 3.9E-07 0.010 None 1.000 1 0 2018 2018
Entrez Id: 785
Gene Symbol: CACNB4
CACNB4
O00305 calcium voltage-gated channel auxiliary subunit beta 4 Ion channel 54 0.653 0.231 3.1E-02 0.010 None 1.000 1 0 2008 2008
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 320 0.489 0.769 1.00 0.020 None 1.000 2 0 2008 2018
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
O14647 chromodomain helicase DNA binding protein 2 99 0.585 0.577 1.00 0.030 None 1.000 3 0 2015 2018
Entrez Id: 10815
Gene Symbol: CPLX1
CPLX1
O14810 complexin 1 138 0.576 0.654 0.82 0.010 None 1.000 1 0 2017 2017
Entrez Id: 4694
Gene Symbol: NDUFA1
NDUFA1
O15239 NADH:ubiquinone oxidoreductase subunit A1 74 0.636 0.423 0.55 0.020 None 1.000 2 2 2007 2018
Entrez Id: 10299
Gene Symbol: MARCHF6
MARCHF6
O60337 membrane associated ring-CH-type finger 6 Enzyme 22 0.722 0.385 1.00 0.010 None 1.000 1 0 2019 2019
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
O76039 cyclin dependent kinase like 5 Kinase 224 0.522 0.692 1.00 0.030 None 1.000 3 0 2006 2011
Entrez Id: 148252
Gene Symbol: DIRAS1
DIRAS1
O95057 DIRAS family GTPase 1 Enzyme modulator 20 0.722 0.231 0.39 0.010 None 1.000 1 0 2017 2017
Entrez Id: 7957
Gene Symbol: EPM2A
EPM2A
O95278 EPM2A glucan phosphatase, laforin 87 0.608 0.577 8.7E-06 0.020 None 1.000 2 0 2002 2016
Entrez Id: 2746
Gene Symbol: GLUD1
GLUD1
P00367 glutamate dehydrogenase 1 Enzyme 86 0.584 0.731 7.0E-03 0.010 None 1.000 1 0 2008 2008
Entrez Id: 4513
Gene Symbol: COX2
COX2
P00403 cytochrome c oxidase subunit II Enzyme 875 0.352 0.962 0.010 None 1.000 1 0 2005 2005
Entrez Id: 5443
Gene Symbol: POMC
POMC
P01189 proopiomelanocortin 873 0.356 0.846 1.2E-04 0.300 None 1.000 1 0 1984 1984
Entrez Id: 4540
Gene Symbol: ND5
ND5
P03915 NADH dehydrogenase, subunit 5 (complex I) Enzyme 241 0.531 0.769 0.020 None 1.000 2 0 2005 2018
Entrez Id: 4541
Gene Symbol: ND6
ND6
P03923 NADH dehydrogenase, subunit 6 (complex I) 224 0.544 0.808 0.010 None 1.000 1 0 2017 2017
Entrez Id: 2629
Gene Symbol: GBA
GBA
P04062 glucosylceramidase beta 319 0.500 0.808 1.4E-06 0.010 None 1.000 1 0 2005 2005
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
P04080 cystatin B Enzyme modulator 155 0.530 0.692 6.6E-03 0.080 None 1.000 8 0 1994 2019
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
P07686 hexosaminidase subunit beta Enzyme 62 0.644 0.654 3.5E-10 0.300 strong 1.000 1 0 1995 1995
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
P11166 solute carrier family 2 member 1 Transporter 687 0.388 0.808 0.99 0.010 None 1.000 1 1 2011 2011
Entrez Id: 410
Gene Symbol: ARSA
ARSA
P15289 arylsulfatase A Enzyme 376 0.448 0.923 1.1E-11 0.010 None 1.000 1 0 1994 1994
Entrez Id: 2348
Gene Symbol: FOLR1
FOLR1
P15328 folate receptor alpha 174 0.522 0.885 0.13 0.010 None 1.000 1 0 2010 2010
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
P16389 potassium voltage-gated channel subfamily A member 2 Ion channel 111 0.612 0.577 0.91 0.010 None 1.000 1 0 2015 2015