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: 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: 80208
Gene Symbol: SPG11
SPG11 		Q96JI7 SPG11 vesicle trafficking associated, spatacsin 139 0.576 0.538 1.6E-39 0.120 None 1.000 3 4 2008 2013
Entrez Id: 6687
Gene Symbol: SPG7
SPG7 		Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 419 0.436 0.885 2.0E-36 0.120 None 1.000 2 2 2007 2008
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26 		Q68DK2 zinc finger FYVE-type containing 26 79 0.636 0.615 4.7E-23 0.010 None 1.000 1 0 2014 2014
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: 8086
Gene Symbol: AAAS
AAAS 		Q9NRG9 aladin WD repeat nucleoporin 92 0.601 0.654 2.4E-13 0.100 None 0 1
Entrez Id: 3425
Gene Symbol: IDUA
IDUA 		P35475 alpha-L-iduronidase Enzyme 258 0.499 0.846 3.8E-13 0.100 None 0 0
Entrez Id: 25939
Gene Symbol: SAMHD1
SAMHD1 		Q9Y3Z3 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 169 0.547 0.769 6.5E-13 0.100 None 0 0
Entrez Id: 23259
Gene Symbol: DDHD2
DDHD2 		O94830 DDHD domain containing 2 Enzyme 37 0.695 0.577 1.4E-10 0.010 None 1.000 1 0 2014 2014
Entrez Id: 339855
Gene Symbol: KY
KY 		Q8NBH2 kyphoscoliosis peptidase 39 0.736 0.231 1.5E-10 0.100 None 1.000 1 1 2017 2017
Entrez Id: 6389
Gene Symbol: SDHA
SDHA 		P31040 succinate dehydrogenase complex flavoprotein subunit A Enzyme 246 0.517 0.731 2.6E-10 0.100 None 0 0
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
Entrez Id: 80347
Gene Symbol: COASY
COASY 		Q13057 Coenzyme A synthase Enzyme 125 0.551 0.654 8.1E-10 0.100 None 0 0
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		Q96G97 BSCL2 lipid droplet biogenesis associated, seipin 221 0.545 0.692 1.1E-09 0.010 None 1.000 1 1 2006 2006
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: 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: 10939
Gene Symbol: AFG3L2
AFG3L2 		Q9Y4W6 AFG3 like matrix AAA peptidase subunit 2 Enzyme 123 0.588 0.462 5.3E-09 0.100 None 0 0
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: 440193
Gene Symbol: CCDC88C
CCDC88C 		Q9P219 coiled-coil domain containing 88C 54 0.647 0.346 3.3E-08 0.100 None 0 0
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: 23111
Gene Symbol: SPART
SPART 		Q8N0X7 spartin 110 0.588 0.654 3.0E-07 0.100 None 0 0
Entrez Id: 9255
Gene Symbol: AIMP1
AIMP1 		Q12904 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 Enzyme 125 0.566 0.769 3.0E-07 0.100 None 0 0
Entrez Id: 10166
Gene Symbol: SLC25A15
SLC25A15 		Q9Y619 solute carrier family 25 member 15 Transporter 54 0.711 0.346 3.7E-07 0.100 None 0 0
Entrez Id: 2629
Gene Symbol: GBA
GBA 		P04062 glucosylceramidase beta 319 0.500 0.808 1.4E-06 0.100 None 0 0
Entrez Id: 9409
Gene Symbol: PEX16
PEX16 		Q9Y5Y5 peroxisomal biogenesis factor 16 124 0.597 0.615 8.3E-05 0.100 None 0 0