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: 51324
Gene Symbol: SPG21
SPG21 		Q9NZD8 SPG21 abhydrolase domain containing, maspardin 46 0.695 0.500 6.6E-04 0.100 None 0 0
Entrez Id: 8139
Gene Symbol: GAN
GAN 		Q9H2C0 gigaxonin 71 0.674 0.500 2.5E-02 0.100 None 0 0
Entrez Id: 84197
Gene Symbol: POMK
POMK 		Q9H5K3 protein O-mannose kinase Kinase 101 0.590 0.500 1.9E-08 0.100 None 0 0
Entrez Id: 84504
Gene Symbol: NKX6-2
NKX6-2 		Q9C056 NK6 homeobox 2 Transcription factor 47 0.695 0.500 2.9E-02 0.100 None 0 0
Entrez Id: 2058
Gene Symbol: EPRS1
EPRS1 		P07814 glutamyl-prolyl-tRNA synthetase 1 Enzyme 65 0.644 0.538 1.0E-09 0.100 None 0 0
Entrez Id: 27030
Gene Symbol: MLH3
MLH3 		Q9UHC1 mutL homolog 3 Nucleic acid binding 108 0.582 0.538 4.9E-08 0.100 None 0 0
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB 		Q9Y5P6 GDP-mannose pyrophosphorylase B 158 0.578 0.538 8.4E-07 0.100 None 0 0
Entrez Id: 4668
Gene Symbol: NAGA
NAGA 		P17050 alpha-N-acetylgalactosaminidase 86 0.647 0.538 1.8E-11 0.100 None 0 0
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 188 0.537 0.538 1.9E-20 0.100 None 0 0
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B 		Q07699 sodium voltage-gated channel beta subunit 1 Ion channel 114 0.575 0.538 0.10 0.100 None 0 0
Entrez Id: 80169
Gene Symbol: CTC1
CTC1 		Q2NKJ3 CST telomere replication complex component 1 121 0.601 0.538 1.6E-11 0.100 None 0 0
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		Q96JI7 SPG11 vesicle trafficking associated, spatacsin 139 0.576 0.538 1.6E-39 0.100 None 0 0
Entrez Id: 84334
Gene Symbol: COA8
COA8 		Q96IL0 cytochrome c oxidase assembly factor 8 61 0.682 0.538 2.1E-04 0.100 None 0 0
Entrez Id: 9587
Gene Symbol: MAD2L1BP
MAD2L1BP 		Q15013 MAD2L1 binding protein 61 0.623 0.577 1.4E-08 0.010 None 1.000 1 0 2010 2010
Entrez Id: 22909
Gene Symbol: FAN1
FAN1 		Q9Y2M0 FANCD2 and FANCI associated nuclease 1 93 0.610 0.577 1.7E-25 0.100 None 0 0
Entrez Id: 2517
Gene Symbol: FUCA1
FUCA1 		P04066 alpha-L-fucosidase 1 103 0.623 0.577 2.7E-08 0.100 None 0 0
Entrez Id: 3735
Gene Symbol: KARS1
KARS1 		Q15046 lysyl-tRNA synthetase 1 Enzyme 62 0.636 0.577 4.2E-09 0.100 None 0 2
Entrez Id: 5264
Gene Symbol: PHYH
PHYH 		O14832 phytanoyl-CoA 2-hydroxylase 65 0.659 0.577 2.4E-06 0.100 None 0 0
Entrez Id: 5521
Gene Symbol: PPP2R2B
PPP2R2B 		Q00005 protein phosphatase 2 regulatory subunit Bbeta Enzyme 86 0.601 0.577 0.98 0.100 None 0 0
Entrez Id: 6785
Gene Symbol: ELOVL4
ELOVL4 		Q9GZR5 ELOVL fatty acid elongase 4 Enzyme 111 0.601 0.577 0.83 0.100 None 0 0
Entrez Id: 7274
Gene Symbol: TTPA
TTPA 		P49638 alpha tocopherol transfer protein Transporter 147 0.612 0.577 1.4E-03 0.100 None 0 0
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1 		O43426 synaptojanin 1 Enzyme 128 0.576 0.577 0.43 0.100 None 0 0
Entrez Id: 9150
Gene Symbol: CTDP1
CTDP1 		Q9Y5B0 CTD phosphatase subunit 1 Enzyme 72 0.641 0.577 6.0E-04 0.100 None 0 0
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12 		Q9NSK7 chromosome 19 open reading frame 12 92 0.641 0.615 0.34 0.010 None 1.000 1 0 2019 2019
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		Q9Y6A1 protein O-mannosyltransferase 1 223 0.525 0.615 4.2E-17 0.100 None 0 0