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: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
NPHP3-ACAD11 readthrough (NMD candidate) 82 0.663 0.577 0.100 None 0 2
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
RNA component of mitochondrial RNA processing endoribonuclease 239 0.519 0.731 0.100 None 0 0
Entrez Id: 56992
Gene Symbol: KIF15
KIF15
Q9NS87 kinesin family member 15 Cellular structure 98 0.617 0.654 9.5E-25 0.100 None 0 0
Entrez Id: 145173
Gene Symbol: B3GLCT
B3GLCT
Q6Y288 beta 3-glucosyltransferase Enzyme 157 0.554 0.731 7.1E-17 0.100 None 0 0
Entrez Id: 8558
Gene Symbol: CDK10
CDK10
Q15131 cyclin dependent kinase 10 Kinase 66 0.650 0.577 1.2E-16 0.100 None 0 0
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: 5189
Gene Symbol: PEX1
PEX1
O43933 peroxisomal biogenesis factor 1 235 0.538 0.769 1.1E-14 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: 2006
Gene Symbol: ELN
ELN
P15502 elastin 545 0.415 0.885 2.1E-14 0.100 None 0 0
Entrez Id: 3977
Gene Symbol: LIFR
LIFR
P42702 LIF receptor subunit alpha Signaling 198 0.523 0.808 1.5E-13 0.100 None 0 0
Entrez Id: 5648
Gene Symbol: MASP1
MASP1
P48740 mannan binding lectin serine peptidase 1 Enzyme 123 0.565 0.885 1.2E-11 0.100 None 0 0
Entrez Id: 10225
Gene Symbol: CD96
CD96
P40200 CD96 molecule 109 0.592 0.692 1.4E-11 0.100 None 0 0
Entrez Id: 5393
Gene Symbol: EXOSC9
EXOSC9
Q06265 exosome component 9 Enzyme 55 0.705 0.423 1.8E-11 0.100 None 0 1
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 0 0
Entrez Id: 51633
Gene Symbol: OTUD6B
OTUD6B
Q8N6M0 OTU deubiquitinase 6B Enzyme 76 0.659 0.538 1.3E-07 0.100 None 0 0
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
O95202 leucine zipper and EF-hand containing transmembrane protein 1 Transporter 188 0.545 0.692 1.2E-06 0.100 None 0 0
Entrez Id: 5982
Gene Symbol: RFC2
RFC2
P35250 replication factor C subunit 2 Enzyme 206 0.520 0.769 2.2E-06 0.100 None 0 0
Entrez Id: 1855
Gene Symbol: DVL1
DVL1
O14640 dishevelled segment polarity protein 1 Signaling 181 0.531 0.769 3.7E-06 0.100 None 0 0
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
P49917 DNA ligase 4 293 0.478 0.846 4.2E-06 0.100 None 0 0
Entrez Id: 80199
Gene Symbol: FUZ
FUZ
Q9BT04 fuzzy planar cell polarity protein 75 0.597 0.731 1.3E-05 0.100 None 0 0
Entrez Id: 80776
Gene Symbol: B9D2
B9D2
Q9BPU9 B9 domain containing 2 Extracellular structure 66 0.606 0.577 5.3E-05 0.100 None 0 0
Entrez Id: 4920
Gene Symbol: ROR2
ROR2
Q01974 receptor tyrosine kinase like orphan receptor 2 Kinase 250 0.498 0.731 1.2E-04 0.100 None 0 0
Entrez Id: 1725
Gene Symbol: DHPS
DHPS
P49366 deoxyhypusine synthase 62 0.670 0.538 1.6E-04 0.100 None 0 0
Entrez Id: 26608
Gene Symbol: TBL2
TBL2
Q9Y4P3 transducin beta like 2 190 0.538 0.731 1.8E-04 0.100 None 0 0
Entrez Id: 79876
Gene Symbol: UBA5
UBA5
Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 150 0.582 0.731 2.5E-04 0.100 None 0 2