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: 347689
Gene Symbol: SOX2-OT
SOX2-OT 		SOX2 overlapping transcript 77 0.597 0.615 0.100 None 1.000 1 1 2018 2018
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: 54187
Gene Symbol: NANS
NANS 		Q9NR45 N-acetylneuraminate synthase Enzyme 153 0.545 0.692 0.100 None 0 0
Entrez Id: 23461
Gene Symbol: ABCA5
ABCA5 		Q8WWZ7 ATP binding cassette subfamily A member 5 Transporter 28 0.736 0.423 4.8E-27 0.100 None 0 0
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A 		O14802 RNA polymerase III subunit A Enzyme 219 0.538 0.769 1.3E-23 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		P0DP91 Q03468 ERCC excision repair 6, chromatin remodeling factor 257 0.507 0.808 5.2E-22 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 1
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: 3425
Gene Symbol: IDUA
IDUA 		P35475 alpha-L-iduronidase Enzyme 258 0.499 0.846 3.8E-13 0.100 None 0 0
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		Q8NFJ9 Bardet-Biedl syndrome 1 111 0.593 0.692 3.4E-12 0.100 None 0 0
Entrez Id: 2492
Gene Symbol: FSHR
FSHR 		P23945 follicle stimulating hormone receptor G-protein coupled receptor 158 0.539 0.654 1.4E-11 0.100 None 0 0
Entrez Id: 9060
Gene Symbol: PAPSS2
PAPSS2 		O95340 3'-phosphoadenosine 5'-phosphosulfate synthase 2 Enzyme 37 0.682 0.462 2.0E-10 0.100 None 0 0
Entrez Id: 10128
Gene Symbol: LRPPRC
LRPPRC 		P42704 leucine rich pentatricopeptide repeat containing 220 0.493 0.769 2.3E-10 0.100 None 0 0
Entrez Id: 5447
Gene Symbol: POR
POR 		P16435 cytochrome p450 oxidoreductase 218 0.502 0.769 3.4E-10 0.100 None 0 0
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		Q96G97 BSCL2 lipid droplet biogenesis associated, seipin 221 0.545 0.692 1.1E-09 0.100 None 0 0
Entrez Id: 79140
Gene Symbol: CCDC28B
CCDC28B 		Q9BUN5 coiled-coil domain containing 28B Receptor 55 0.659 0.538 3.2E-09 0.100 None 0 0
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		P15848 arylsulfatase B 96 0.595 0.692 7.0E-09 0.100 None 0 0
Entrez Id: 6878
Gene Symbol: TAF6
TAF6 		P49848 TATA-box binding protein associated factor 6 Transcription factor 29 0.769 0.308 8.3E-09 0.100 None 0 0
Entrez Id: 9563
Gene Symbol: H6PD
H6PD 		O95479 hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase Enzyme 64 0.619 0.654 8.6E-09 0.100 None 0 0
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		O60706 ATP binding cassette subfamily C member 9 Transporter 175 0.552 0.692 9.4E-09 0.100 None 1.000 1 1 2016 2016
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU 		P54802 N-acetyl-alpha-glucosaminidase 152 0.546 0.769 1.4E-08 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 1
Entrez Id: 2990
Gene Symbol: GUSB
GUSB 		P08236 glucuronidase beta 183 0.530 0.846 4.0E-08 0.100 None 0 0
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT 		Q68CP4 heparan-alpha-glucosaminide N-acetyltransferase 108 0.628 0.577 6.3E-08 0.100 None 0 1
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