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: 178
Gene Symbol: AGL
AGL
P35573 amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase Enzyme 59 0.644 0.615 2.8E-27 0.100 None 0 0
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Q8N157 Abelson helper integration site 1 221 0.513 0.846 1.1E-25 0.010 None 1.000 1 0 2010 2010
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: 55703
Gene Symbol: POLR3B
POLR3B
Q9NW08 RNA polymerase III subunit B Enzyme 71 0.628 0.654 1.7E-23 0.100 None 0 0
Entrez Id: 284403
Gene Symbol: WDR62
WDR62
O43379 WD repeat domain 62 83 0.597 0.615 2.4E-23 0.010 None 1.000 1 0 2014 2014
Entrez Id: 6499
Gene Symbol: SKIV2L
SKIV2L
Q15477 Ski2 like RNA helicase 96 0.615 0.654 1.3E-22 0.100 None 0 0
Entrez Id: 1806
Gene Symbol: DPYD
DPYD
Q12882 dihydropyrimidine dehydrogenase Enzyme 249 0.493 0.846 3.4E-22 0.100 None 0 0
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1
Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 188 0.537 0.538 1.9E-20 0.100 None 0 0
Entrez Id: 57704
Gene Symbol: GBA2
GBA2
Q9HCG7 glucosylceramidase beta 2 79 0.636 0.654 2.0E-20 0.100 None 0 0
Entrez Id: 10466
Gene Symbol: COG5
COG5
Q9UP83 component of oligomeric golgi complex 5 71 0.656 0.538 9.8E-20 0.100 None 0 0
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
P20807 calpain 3 Enzyme 137 0.564 0.615 3.6E-19 0.100 None 0 1
Entrez Id: 10585
Gene Symbol: POMT1
POMT1
Q9Y6A1 protein O-mannosyltransferase 1 223 0.525 0.615 4.2E-17 0.110 None 1.000 1 0 2005 2005
Entrez Id: 10020
Gene Symbol: GNE
GNE
Q9Y223 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Enzyme 118 0.610 0.692 2.5E-16 0.100 None 0 0
Entrez Id: 1757
Gene Symbol: SARDH
SARDH
Q9UL12 sarcosine dehydrogenase Enzyme 166 0.523 0.846 5.3E-16 0.100 None 0 0
Entrez Id: 55780
Gene Symbol: ERMARD
ERMARD
Q5T6L9 ER membrane associated RNA degradation 65 0.647 0.538 5.8E-16 0.100 None 0 0
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
P29033 gap junction protein beta 2 Cell-cell junction 392 0.441 0.846 6.6E-16 0.100 None 0 1
Entrez Id: 641
Gene Symbol: BLM
BLM
P54132 BLM RecQ like helicase 158 0.535 0.808 1.5E-15 0.100 None 0 0
Entrez Id: 4141
Gene Symbol: MARS1
MARS1
P56192 methionyl-tRNA synthetase 1 66 0.638 0.654 2.1E-15 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 1
Entrez Id: 402569
Gene Symbol: KPNA7
KPNA7
A9QM74 karyopherin subunit alpha 7 13 0.805 0.308 3.4E-15 0.100 None 1.000 1 1 2016 2016
Entrez Id: 10765
Gene Symbol: KDM5B
KDM5B
Q9UGL1 lysine demethylase 5B Epigenetic regulator 162 0.532 0.731 7.9E-15 0.100 None 0 0
Entrez Id: 55129
Gene Symbol: ANO10
ANO10
Q9NW15 anoctamin 10 62 0.663 0.500 1.0E-14 0.100 None 0 0
Entrez Id: 83696
Gene Symbol: TRAPPC9
TRAPPC9
Q96Q05 trafficking protein particle complex 9 111 0.603 0.577 2.3E-14 0.100 None 0 0
Entrez Id: 23334
Gene Symbol: SZT2
SZT2
Q5T011 SZT2 subunit of KICSTOR complex 72 0.670 0.423 2.3E-14 0.010 None 1.000 1 0 2018 2018
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
Q8IY17 patatin like phospholipase domain containing 6 Enzyme 167 0.533 0.769 1.9E-13 0.100 None 0 0