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: 100126572
Gene Symbol: GJE1
GJE1 		A6NN92 gap junction protein epsilon 1 3 1.000 0.077 0.11 0.010 None 1.000 1 0 2011 2011
Entrez Id: 25822
Gene Symbol: DNAJB5
DNAJB5 		O75953 DnaJ heat shock protein family (Hsp40) member B5 4 0.931 0.115 0.21 0.100 None 1.000 1 1 2015 2015
Entrez Id: 94008
Gene Symbol: SCA18
SCA18 		spinocerebellar ataxia 18 (sensory with neurogenic muscular atrophy) 5 0.010 None 1.000 1 0 2018 2018
Entrez Id: 791228
Gene Symbol: SPG36
SPG36 		spastic paraplegia 36 (autosomal dominant) 6 0.861 0.231 0.010 None 1.000 1 0 2009 2009
Entrez Id: 55964
Gene Symbol: SEPTIN3
SEPTIN3 		Q9UH03 septin 3 Enzyme modulator 8 0.839 0.231 8.9E-02 0.010 None 1.000 1 0 2020 2020
Entrez Id: 9937
Gene Symbol: DCLRE1A
DCLRE1A 		Q6PJP8 DNA cross-link repair 1A 8 0.821 0.269 1.9E-09 0.010 None 1.000 1 1 2018 2018
Entrez Id: 10677
Gene Symbol: AVIL
AVIL 		O75366 advillin Cellular structure 9 0.890 0.154 1.7E-13 0.010 None 1.000 1 0 2018 2018
Entrez Id: 55304
Gene Symbol: SPTLC3
SPTLC3 		Q9NUV7 serine palmitoyltransferase long chain base subunit 3 Enzyme 10 0.821 0.192 3.2E-07 0.100 None 1.000 1 1 2015 2015
Entrez Id: 126637
Gene Symbol: TCHHL1
TCHHL1 		Q5QJ38 trichohyalin like 1 12 0.780 0.231 0.58 0.010 None 1.000 1 0 2017 2017
Entrez Id: 2834
Gene Symbol: PRLHR
PRLHR 		P49683 prolactin releasing hormone receptor G-protein coupled receptor 14 0.792 0.308 7.7E-05 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5689
Gene Symbol: PSMB1
PSMB1 		P20618 proteasome 20S subunit beta 1 15 0.780 0.269 0.97 0.010 None 1.000 1 1 2011 2011
Entrez Id: 255324
Gene Symbol: EPGN
EPGN 		Q6UW88 epithelial mitogen Signaling 17 0.760 0.385 2.4E-04 0.010 None 1.000 1 0 2013 2013
Entrez Id: 1337
Gene Symbol: COX6A1
COX6A1 		P12074 cytochrome c oxidase subunit 6A1 Enzyme 18 0.780 0.154 2.3E-03 0.100 None 0 1
Entrez Id: 5375
Gene Symbol: PMP2
PMP2 		P02689 peripheral myelin protein 2 20 0.769 0.231 8.5E-03 0.120 None 1.000 3 2 2015 2019
Entrez Id: 1780
Gene Symbol: DYNC1I1
DYNC1I1 		O14576 dynein cytoplasmic 1 intermediate chain 1 Cellular structure 21 0.760 0.192 1.8E-07 0.010 None 1.000 1 1 2011 2011
Entrez Id: 57634
Gene Symbol: EP400
EP400 		Q96L91 E1A binding protein p400 22 0.751 0.385 1.00 0.010 None 1.000 1 0 2019 2019
Entrez Id: 81027
Gene Symbol: TUBB1
TUBB1 		Q9H4B7 tubulin beta 1 class VI Cellular structure 22 0.780 0.385 1.0E-07 0.010 None 1.000 1 0 2014 2014
Entrez Id: 55722
Gene Symbol: CEP72
CEP72 		Q9P209 centrosomal protein 72 25 0.729 0.346 1.6E-19 0.050 None 1.000 5 0 2015 2019
Entrez Id: 23438
Gene Symbol: HARS2
HARS2 		P49590 histidyl-tRNA synthetase 2, mitochondrial Enzyme 25 0.705 0.462 2.8E-05 0.010 None 1.000 1 0 2013 2013
Entrez Id: 5453
Gene Symbol: POU3F1
POU3F1 		Q03052 POU class 3 homeobox 1 25 0.711 0.462 0.56 0.010 None 1.000 1 0 2007 2007
Entrez Id: 64641
Gene Symbol: EBF2
EBF2 		Q9HAK2 EBF transcription factor 2 27 0.716 0.538 1.00 0.010 None 1.000 1 0 2011 2011
Entrez Id: 55244
Gene Symbol: SLC47A1
SLC47A1 		Q96FL8 solute carrier family 47 member 1 Transporter 28 0.729 0.462 2.0E-14 0.010 None 1.000 1 0 2019 2019
Entrez Id: 9639
Gene Symbol: ARHGEF10
ARHGEF10 		O15013 Rho guanine nucleotide exchange factor 10 Enzyme 29 0.729 0.577 6.8E-30 0.020 None 1.000 2 0 2015 2017
Entrez Id: 9517
Gene Symbol: SPTLC2
SPTLC2 		O15270 serine palmitoyltransferase long chain base subunit 2 Enzyme 29 0.736 0.346 0.78 0.010 None 1.000 1 0 2018 2018
Entrez Id: 8565
Gene Symbol: YARS1
YARS1 		P54577 tyrosyl-tRNA synthetase 1 Enzyme 30 0.705 0.500 1.0E-03 0.030 None 0.667 3 1 2012 2019