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: 215
Gene Symbol: ABCD1
ABCD1 		P33897 ATP binding cassette subfamily D member 1 Transporter 154 0.563 0.731 1.00 0.310 strong 1.000 3 0 2005 2013
Entrez Id: 79152
Gene Symbol: FA2H
FA2H 		Q7L5A8 fatty acid 2-hydroxylase Enzyme 131 0.573 0.654 0.15 0.120 None 1.000 2 0 2008 2011
Entrez Id: 5833
Gene Symbol: PCYT2
PCYT2 		Q99447 phosphate cytidylyltransferase 2, ethanolamine Enzyme 13 0.821 0.192 8.6E-04 0.300 strong 1.000 2 0 2012 2019
Entrez Id: 5354
Gene Symbol: PLP1
PLP1 		P60201 proteolipid protein 1 Cellular structure 160 0.543 0.769 0.93 0.120 None 1.000 2 0 2016 2017
Entrez Id: 80821
Gene Symbol: DDHD1
DDHD1 		Q8NEL9 DDHD domain containing 1 Enzyme 38 0.716 0.423 0.90 0.020 None 1.000 2 0 2014 2016
Entrez Id: 3329
Gene Symbol: HSPD1
HSPD1 		P10809 heat shock protein family D (Hsp60) member 1 398 0.432 0.808 0.99 0.010 None 1.000 1 0 2008 2008
Entrez Id: 2741
Gene Symbol: GLRA1
GLRA1 		P23415 glycine receptor alpha 1 Ion channel 75 0.628 0.500 1.6E-04 0.010 None 1.000 1 0 1996 1996
Entrez Id: 65125
Gene Symbol: WNK1
WNK1 		Q9H4A3 WNK lysine deficient protein kinase 1 Kinase 460 0.416 0.846 1.00 0.010 None 1.000 1 0 2015 2015
Entrez Id: 9927
Gene Symbol: MFN2
MFN2 		O95140 mitofusin 2 Enzyme 334 0.471 0.846 0.99 0.010 None 1.000 1 0 2008 2008
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1 		Q9BYX4 interferon induced with helicase C domain 1 319 0.471 0.808 7.0E-44 0.110 None 1.000 1 0 2018 2018
Entrez Id: 3798
Gene Symbol: KIF5A
KIF5A 		Q12840 kinesin family member 5A Cellular structure 112 0.593 0.731 1.00 0.010 None 1.000 1 0 2014 2014
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.010 None 1.000 1 0 2004 2004
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 2018 2018
Entrez Id: 6049
Gene Symbol: RNF6
RNF6 		Q9Y252 ring finger protein 6 46 0.656 0.615 1.4E-02 0.010 None 1.000 1 0 2016 2016
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 2020 2020
Entrez Id: 5443
Gene Symbol: POMC
POMC 		P01189 proopiomelanocortin 873 0.356 0.846 1.2E-04 0.010 None 1.000 1 0 1981 1981
Entrez Id: 57704
Gene Symbol: GBA2
GBA2 		Q9HCG7 glucosylceramidase beta 2 79 0.636 0.654 2.0E-20 0.010 None 1.000 1 0 2014 2014
Entrez Id: 54902
Gene Symbol: TTC19
TTC19 		Q6DKK2 tetratricopeptide repeat domain 19 78 0.663 0.385 1.4E-08 0.110 None 1.000 1 0 2015 2015
Entrez Id: 55275
Gene Symbol: VPS53
VPS53 		Q5VIR6 VPS53 subunit of GARP complex 49 0.659 0.654 1.4E-07 0.010 None 1.000 1 0 2019 2019
Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B 		Q5TBB1 ribonuclease H2 subunit B 115 0.595 0.615 3.3E-09 0.400 None 1.000 1 0 2017 2017
Entrez Id: 10194
Gene Symbol: TSHZ1
TSHZ1 		Q6ZSZ6 teashirt zinc finger homeobox 1 Transcription factor 99 0.569 0.731 1.00 0.010 None 1.000 1 0 1996 1996
Entrez Id: 94081
Gene Symbol: SFXN1
SFXN1 		Q9H9B4 sideroflexin 1 Transporter 73 0.597 0.731 9.7E-04 0.010 None 1.000 1 0 2008 2008
Entrez Id: 10749
Gene Symbol: KIF1C
KIF1C 		O43896 kinesin family member 1C Cellular structure 49 0.700 0.500 0.72 0.010 None 1.000 1 0 2014 2014
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 2014 2014
Entrez Id: 823
Gene Symbol: CAPN1
CAPN1 		P07384 calpain 1 Enzyme 165 0.539 0.808 5.9E-10 0.010 None 1.000 1 0 2019 2019