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: 57760
Gene Symbol: SPG16
SPG16 		spastic paraplegia 16 (complicated, X-linked recessive) 18 0.722 0.423 0.020 None 1.000 2 0 1996 2017
Entrez Id: 338090
Gene Symbol: SPG24
SPG24 		spastic paraplegia 24 (autosomal recessive) 2 0.931 0.077 0.010 None 1.000 1 0 2007 2007
Entrez Id: 57309
Gene Symbol: SPG14
SPG14 		spastic paraplegia 14 (autosomal recessive) 3 0.890 0.192 0.010 None 1.000 1 0 2015 2015
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		Q96JI7 SPG11 vesicle trafficking associated, spatacsin 139 0.576 0.538 1.6E-39 0.180 None 1.000 8 0 2007 2019
Entrez Id: 6687
Gene Symbol: SPG7
SPG7 		Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 419 0.436 0.885 2.0E-36 0.430 None 1.000 3 2 1998 2013
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6 		O95255 ATP binding cassette subfamily C member 6 Transporter 181 0.540 0.654 5.6E-35 0.100 None 0 1
Entrez Id: 9907
Gene Symbol: AP5Z1
AP5Z1 		O43299 adaptor related protein complex 5 subunit zeta 1 47 0.700 0.346 7.3E-31 0.110 None 1.000 1 0 2015 2015
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		Q5HYA8 transmembrane protein 67 215 0.512 0.769 2.1E-24 0.100 None 1.000 2 1 1999 2017
Entrez Id: 55764
Gene Symbol: IFT122
IFT122 		Q9HBG6 intraflagellar transport 122 135 0.560 0.846 2.4E-24 0.020 None 1.000 2 0 1996 2017
Entrez Id: 26278
Gene Symbol: SACS
SACS 		Q9NZJ4 sacsin molecular chaperone 106 0.606 0.654 1.1E-23 0.110 None 1.000 8 13 2000 2013
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26 		Q68DK2 zinc finger FYVE-type containing 26 79 0.636 0.615 4.7E-23 0.110 None 1.000 5 10 1981 2016
Entrez Id: 3912
Gene Symbol: LAMB1
LAMB1 		P07942 laminin subunit beta 1 Enzyme modulator 75 0.615 0.654 5.1E-22 0.100 None 0 0
Entrez Id: 64097
Gene Symbol: EPB41L4A
EPB41L4A 		Q9HCS5 erythrocyte membrane protein band 4.1 like 4A 5 0.890 0.231 3.5E-21 0.100 None 0 1
Entrez Id: 57704
Gene Symbol: GBA2
GBA2 		Q9HCG7 glucosylceramidase beta 2 79 0.636 0.654 2.0E-20 0.120 None 1.000 2 1 2015 2018
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3 		P20807 calpain 3 Enzyme 137 0.564 0.615 3.6E-19 0.010 None 1.000 1 0 2012 2012
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5 		Q12768 WASH complex subunit 5 Transporter 129 0.572 0.615 8.3E-18 0.100 None 0 0
Entrez Id: 9179
Gene Symbol: AP4M1
AP4M1 		O00189 adaptor related protein complex 4 subunit mu 1 Extracellular structure 78 0.638 0.500 4.5E-17 0.110 None 1.000 1 0 2019 2019
Entrez Id: 114034
Gene Symbol: TOE1
TOE1 		Q96GM8 target of EGR1, exonuclease Nucleic acid binding 51 0.682 0.462 6.0E-16 0.100 None 0 0
Entrez Id: 100533467
Gene Symbol: BIVM-ERCC5
BIVM-ERCC5 		BIVM-ERCC5 readthrough 15 0.736 0.308 1.3E-15 0.100 None 0 1
Entrez Id: 79823
Gene Symbol: CAMKMT
CAMKMT 		Q7Z624 calmodulin-lysine N-methyltransferase 185 0.510 0.808 1.4E-15 0.010 None 1.000 1 0 1995 1995
Entrez Id: 2581
Gene Symbol: GALC
GALC 		P54803 galactosylceramidase 99 0.604 0.615 5.2E-15 0.020 None 1.000 2 0 1997 2016
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6 		Q8IY17 patatin like phospholipase domain containing 6 Enzyme 167 0.533 0.769 1.9E-13 0.120 None 1.000 2 0 2015 2019
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5 		P28715 ERCC excision repair 5, endonuclease 238 0.499 0.731 2.7E-13 0.100 None 0 1
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		Q04446 1,4-alpha-glucan branching enzyme 1 Enzyme 102 0.612 0.654 1.1E-12 0.100 None 0 0
Entrez Id: 57679
Gene Symbol: ALS2
ALS2 		Q96Q42 alsin Rho guanine nucleotide exchange factor ALS2 84 0.647 0.423 8.7E-12 0.100 None 0 1