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: 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: 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: 8050
Gene Symbol: PDHX
PDHX 		O00330 pyruvate dehydrogenase complex component X Enzyme 93 0.595 0.692 9.7E-05 0.100 None 0 0
Entrez Id: 9197
Gene Symbol: SLC33A1
SLC33A1 		O00400 solute carrier family 33 member 1 Transporter 170 0.529 0.769 9.9E-05 0.110 None 1.000 1 0 2013 2013
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L 		O00429 dynamin 1 like Enzyme modulator 273 0.475 0.808 5.7E-04 0.100 None 0 0
Entrez Id: 889
Gene Symbol: KRIT1
KRIT1 		O00522 KRIT1 ankyrin repeat containing 201 0.500 0.808 6.9E-04 0.010 None 1.000 1 0 1995 1995
Entrez Id: 8099
Gene Symbol: CDK2AP1
CDK2AP1 		O14519 cyclin dependent kinase 2 associated protein 1 Enzyme modulator 48 0.656 0.538 0.45 0.100 None 0 1
Entrez Id: 8630
Gene Symbol: HSD17B6
HSD17B6 		O14756 hydroxysteroid 17-beta dehydrogenase 6 Enzyme 82 0.592 0.692 0.35 0.010 None 1.000 1 0 2006 2006
Entrez Id: 9895
Gene Symbol: TECPR2
TECPR2 		O15040 tectonin beta-propeller repeat containing 2 51 0.663 0.423 0.58 0.100 None 0 0
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: 2895
Gene Symbol: GRID2
GRID2 		O43424 glutamate ionotropic receptor delta type subunit 2 Ion channel 50 0.670 0.500 1.00 0.010 None 1.000 1 0 2014 2014
Entrez Id: 9314
Gene Symbol: KLF4
KLF4 		O43474 Kruppel like factor 4 Nucleic acid binding 307 0.449 0.769 1.00 0.010 None 1.000 1 0 2017 2017
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: 4976
Gene Symbol: OPA1
OPA1 		O60313 OPA1 mitochondrial dynamin like GTPase Enzyme modulator 236 0.510 0.846 0.99 0.100 None 0 0
Entrez Id: 23095
Gene Symbol: KIF1B
KIF1B 		O60333 kinesin family member 1B Cellular structure 213 0.516 0.808 1.00 0.010 None 1.000 1 0 2016 2016
Entrez Id: 6253
Gene Symbol: RTN2
RTN2 		O75298 reticulon 2 43 0.711 0.385 0.42 0.110 None 1.000 1 0 2001 2001
Entrez Id: 9420
Gene Symbol: CYP7B1
CYP7B1 		O75881 cytochrome P450 family 7 subfamily B member 1 Enzyme 141 0.563 0.692 3.3E-06 0.120 None 1.000 13 10 1998 2016
Entrez Id: 23259
Gene Symbol: DDHD2
DDHD2 		O94830 DDHD domain containing 2 Enzyme 37 0.695 0.577 1.4E-10 0.110 None 1.000 1 0 2018 2018
Entrez Id: 11160
Gene Symbol: ERLIN2
ERLIN2 		O94905 ER lipid raft associated 2 85 0.647 0.500 6.7E-04 0.100 None 0 0
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 2016 2016
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: 10667
Gene Symbol: FARS2
FARS2 		O95363 phenylalanyl-tRNA synthetase 2, mitochondrial Enzyme 89 0.615 0.731 9.3E-09 0.100 None 0 0