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: 55191
Gene Symbol: NADSYN1
NADSYN1
Q6IA69 NAD synthetase 1 14 0.780 0.231 1.3E-16 0.300 strong 1.000 1 0 2020 2020
Entrez Id: 55687
Gene Symbol: TRMU
TRMU
O75648 tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase 50 0.716 0.385 1.5E-16 0.100 None 1.000 7 2 2009 2015
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 422 0.457 0.808 2.2E-16 0.100 None 1.000 24 2 1976 2017
Entrez Id: 26276
Gene Symbol: VPS33B
VPS33B
Q9H267 VPS33B late endosome and lysosome associated Transporter 55 0.644 0.654 2.4E-16 0.100 None 1.000 5 2 2004 2015
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
Q8IXJ9 ASXL transcriptional regulator 1 296 0.482 0.808 1.3E-14 0.100 None 1.000 7 3 2004 2015
Entrez Id: 3859
Gene Symbol: KRT12
KRT12
Q99456 keratin 12 18 0.751 0.192 2.5E-14 0.100 None 1.000 2 1 1997 2008
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Q9NRG9 aladin WD repeat nucleoporin 92 0.601 0.654 2.4E-13 0.100 None 1.000 6 1 1980 2015
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Q9UBM7 7-dehydrocholesterol reductase Enzyme 266 0.500 0.846 3.9E-13 0.100 None 1.000 16 2 1994 2013
Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1
O95672 endothelin converting enzyme like 1 Enzyme 60 0.638 0.308 4.8E-13 0.100 None 1.000 5 1 2013 2015
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
Q8TAM1 Bardet-Biedl syndrome 10 63 0.644 0.538 1.7E-12 0.100 None 1.000 17 1 1999 2013
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
O15297 protein phosphatase, Mg2+/Mn2+ dependent 1D Enzyme 177 0.513 0.808 2.2E-11 0.100 None 1.000 11 1 2008 2017
Entrez Id: 2733
Gene Symbol: GLE1
GLE1
Q53GS7 GLE1 RNA export mediator Transporter 93 0.628 0.577 2.1E-10 0.100 None 1.000 7 1 1985 2017
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
Q13509 tubulin beta 3 class III Cellular structure 259 0.486 0.808 2.6E-10 0.100 None 1.000 10 1 2010 2016
Entrez Id: 5205
Gene Symbol: ATP8B1
ATP8B1
O43520 ATPase phospholipid transporting 8B1 Transporter 70 0.610 0.500 2.8E-10 0.100 None 1.000 6 1 1998 2015
Entrez Id: 4528
Gene Symbol: MTIF2
MTIF2
P46199 mitochondrial translational initiation factor 2 Enzyme 2 1.000 3.7E-10 0.100 None 0 1
Entrez Id: 3000
Gene Symbol: GUCY2D
GUCY2D
Q02846 guanylate cyclase 2D, retinal Kinase 121 0.570 0.769 6.5E-10 0.100 None 1.000 9 2 2000 2018
Entrez Id: 54499
Gene Symbol: TMCO1
TMCO1
Q9UM00 transmembrane and coiled-coil domains 1 122 0.588 0.654 9.4E-10 0.100 None 1.000 4 2 2010 2014
Entrez Id: 525
Gene Symbol: ATP6V1B1
ATP6V1B1
P15313 ATPase H+ transporting V1 subunit B1 Transporter 30 0.695 0.346 2.4E-09 0.100 None 1.000 9 2 1995 2017
Entrez Id: 23483
Gene Symbol: TGDS
TGDS
O95455 TDP-glucose 4,6-dehydratase 63 0.644 0.538 2.5E-09 0.100 None 1.000 7 1 2003 2017
Entrez Id: 51117
Gene Symbol: COQ4
COQ4
Q9Y3A0 coenzyme Q4 17 0.780 0.269 3.4E-09 0.100 None 1.000 13 2 2005 2017
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 8 1 1999 2013
Entrez Id: 23498
Gene Symbol: HAAO
HAAO
P46952 3-hydroxyanthranilate 3,4-dioxygenase 47 0.644 0.538 1.1E-08 0.300 strong 1.000 1 0 2017 2017
Entrez Id: 6905
Gene Symbol: TBCE
TBCE
Q15813 tubulin folding cofactor E Chaperone 146 0.575 0.692 1.7E-08 0.100 None 1.000 6 2 1991 2016
Entrez Id: 55733
Gene Symbol: HHAT
HHAT
Q5VTY9 hedgehog acyltransferase Enzyme 75 0.608 0.577 3.2E-08 0.100 None 1.000 4 1 2004 2014
Entrez Id: 89910
Gene Symbol: UBE3B
UBE3B
Q7Z3V4 ubiquitin protein ligase E3B 119 0.590 0.692 4.2E-08 0.100 None 1.000 8 1 2003 2018