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: 80856
Gene Symbol: LNPK
LNPK
Q9C0E8 lunapark, ER junction formation factor 31 0.716 0.346 6.2E-04 0.400 moderate 1.000 1 0 2018 2018
Entrez Id: 8239
Gene Symbol: USP9X
USP9X
Q93008 ubiquitin specific peptidase 9 X-linked 255 0.502 0.846 1.00 0.110 None 1.000 1 0 2017 2017
Entrez Id: 84720
Gene Symbol: PIGO
PIGO
Q8TEQ8 phosphatidylinositol glycan anchor biosynthesis class O 87 0.636 0.615 6.1E-11 0.010 None 1.000 1 0 2017 2017
Entrez Id: 9790
Gene Symbol: BMS1
BMS1
Q14692 BMS1 ribosome biogenesis factor 192 0.499 0.846 1.8E-04 0.010 None 1.000 1 0 2018 2018
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 199 0.556 0.808 0.100 None 0 0
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
NPHP3-ACAD11 readthrough (NMD candidate) 82 0.663 0.577 0.100 None 0 2
Entrez Id: 10300
Gene Symbol: KATNB1
KATNB1
Q9BVA0 katanin regulatory subunit B1 42 0.674 0.346 1.4E-05 0.100 None 0 0
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 0
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: 11152
Gene Symbol: WDR45
WDR45
Q9Y484 WD repeat domain 45 72 0.647 0.423 0.99 0.100 None 0 1
Entrez Id: 11277
Gene Symbol: TREX1
TREX1
Q9NSU2 three prime repair exonuclease 1 241 0.517 0.808 0.58 0.100 None 0 0
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
Q96T60 polynucleotide kinase 3'-phosphatase 163 0.553 0.692 3.7E-14 0.100 None 0 0
Entrez Id: 11342
Gene Symbol: RNF13
RNF13
O43567 ring finger protein 13 33 0.722 0.346 4.0E-04 0.100 None 0 0
Entrez Id: 122553
Gene Symbol: TRAPPC6B
TRAPPC6B
Q86SZ2 trafficking protein particle complex 6B 25 0.751 0.308 1.5E-04 0.100 None 0 0
Entrez Id: 124512
Gene Symbol: METTL23
METTL23
Q86XA0 methyltransferase like 23 49 0.682 0.231 1.3E-07 0.100 None 0 0
Entrez Id: 124997
Gene Symbol: WDR81
WDR81
Q562E7 WD repeat domain 81 67 0.670 0.462 6.7E-08 0.100 None 0 0
Entrez Id: 128637
Gene Symbol: TBC1D20
TBC1D20
Q96BZ9 TBC1 domain family member 20 79 0.621 0.500 0.93 0.100 None 0 0
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
P35222 catenin beta 1 1368 0.303 0.885 1.00 0.100 None 0 0
Entrez Id: 153241
Gene Symbol: CEP120
CEP120
Q8N960 centrosomal protein 120 153 0.564 0.731 4.1E-15 0.100 None 0 0
Entrez Id: 160418
Gene Symbol: TMTC3
TMTC3
Q6ZXV5 transmembrane O-mannosyltransferase targeting cadherins 3 57 0.636 0.538 4.6E-05 0.100 None 0 0
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X
O00571 DEAD-box helicase 3 X-linked 180 0.537 0.769 1.00 0.100 None 0 1
Entrez Id: 170302
Gene Symbol: ARX
ARX
Q96QS3 aristaless related homeobox 249 0.516 0.654 0.91 0.100 None 0 0
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
Q8IXJ9 ASXL transcriptional regulator 1 296 0.482 0.808 1.3E-14 0.100 None 0 0
Entrez Id: 1729
Gene Symbol: DIAPH1
DIAPH1
O60610 diaphanous related formin 1 71 0.623 0.654 0.92 0.100 None 0 0
Entrez Id: 1822
Gene Symbol: ATN1
ATN1
P54259 atrophin 1 499 0.409 0.885 1.00 0.100 None 0 0