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: 6314
Gene Symbol: ATXN7
ATXN7 		O15265 ataxin 7 162 0.581 0.654 0.96 0.110 None 1.000 1 0 2003 2003
Entrez Id: 6607
Gene Symbol: SMN2
SMN2 		Q16637 survival of motor neuron 2, centromeric 299 0.459 0.769 0.10 0.010 None 1.000 1 0 2013 2013
Entrez Id: 692222
Gene Symbol: OPA5
OPA5 		optic atrophy 5 (autosomal dominant) 5 0.839 0.154 0.010 None 1.000 1 0 2006 2006
Entrez Id: 777778
Gene Symbol: OPA6
OPA6 		optic atrophy 6 (autosomal recessive) 2 0.931 0.115 0.010 None 1.000 1 0 2012 2012
Entrez Id: 8086
Gene Symbol: AAAS
AAAS 		Q9NRG9 aladin WD repeat nucleoporin 92 0.601 0.654 2.4E-13 0.110 None 1.000 1 0 2018 2018
Entrez Id: 84164
Gene Symbol: ASCC2
ASCC2 		Q9H1I8 activating signal cointegrator 1 complex subunit 2 53 0.633 0.615 3.1E-02 0.010 None 1.000 1 0 2018 2018
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1 		P78357 contactin associated protein 1 166 0.554 0.577 3.4E-05 0.100 None 1.000 1 1 2017 2017
Entrez Id: 8926
Gene Symbol: SNURF
SNURF 		P63162 Q9Y675 SNRPN upstream reading frame 63 0.623 0.538 0.46 0.010 None 1.000 1 0 2013 2013
Entrez Id: 90417
Gene Symbol: KNSTRN
KNSTRN 		Q9Y448 kinetochore localized astrin (SPAG5) binding protein 19 0.729 0.500 2.1E-06 0.010 None < 0.001 1 0 2018 2018
Entrez Id: 9241
Gene Symbol: NOG
NOG 		Q13253 noggin 206 0.518 0.731 0.89 0.010 None 1.000 1 0 2016 2016
Entrez Id: 92609
Gene Symbol: TIMM50
TIMM50 		Q3ZCQ8 translocase of inner mitochondrial membrane 50 50 0.678 0.500 1.8E-03 0.110 None 1.000 1 0 2019 2019
Entrez Id: 9445
Gene Symbol: ITM2B
ITM2B 		Q9Y287 integral membrane protein 2B 77 0.617 0.654 0.63 0.010 None 1.000 1 0 2018 2018
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 2015 2015
Entrez Id: 100131801
Gene Symbol: PET100
PET100 		P0DJ07 PET100 cytochrome c oxidase chaperone 68 0.650 0.577 3.6E-04 0.100 None 0 0
Entrez Id: 10329
Gene Symbol: RXYLT1
RXYLT1 		Q9Y2B1 ribitol xylosyltransferase 1 55 0.633 0.462 1.1E-06 0.100 None 0 0
Entrez Id: 10342
Gene Symbol: TFG
TFG 		Q92734 trafficking from ER to golgi regulator 104 0.595 0.615 0.14 0.100 None 0 1
Entrez Id: 10352
Gene Symbol: WARS2
WARS2 		Q9UGM6 tryptophanyl tRNA synthetase 2, mitochondrial 110 0.617 0.577 5.1E-02 0.100 None 0 2
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
Entrez Id: 11041
Gene Symbol: B4GAT1
B4GAT1 		O43505 beta-1,4-glucuronyltransferase 1 84 0.590 0.538 6.9E-03 0.100 None 0 0
Entrez Id: 11152
Gene Symbol: WDR45
WDR45 		Q9Y484 WD repeat domain 45 72 0.647 0.423 0.99 0.100 None 0 0
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		Q96P20 NLR family pyrin domain containing 3 805 0.361 0.962 8.1E-04 0.100 None 0 0
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8 		Q13216 ERCC excision repair 8, CSA ubiquitin ligase complex subunit 175 0.551 0.885 2.8E-15 0.100 None 0 0
Entrez Id: 116150
Gene Symbol: NUS1
NUS1 		Q96E22 NUS1 dehydrodolichyl diphosphate synthase subunit 94 0.619 0.615 0.98 0.100 None 0 0
Entrez Id: 116228
Gene Symbol: COX20
COX20 		Q5RI15 cytochrome c oxidase assembly factor COX20 44 0.705 0.538 2.0E-02 0.100 None 0 0
Entrez Id: 122961
Gene Symbol: ISCA2
ISCA2 		Q86U28 iron-sulfur cluster assembly 2 27 0.743 0.231 2.4E-08 0.100 None 0 1