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: 8289
Gene Symbol: ARID1A
ARID1A
O14497 AT-rich interaction domain 1A 341 0.455 0.846 1.00 0.100 None 0 1
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: 8085
Gene Symbol: KMT2D
KMT2D
O14686 lysine methyltransferase 2D 320 0.465 0.808 1.00 0.100 None 0 1
Entrez Id: 6862
Gene Symbol: TBXT
TBXT
O15178 T-box transcription factor T Transcription factor 41 0.674 0.462 2.4E-02 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: 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: 7468
Gene Symbol: NSD2
NSD2
O96028 nuclear receptor binding SET domain protein 2 Epigenetic regulator 224 0.507 0.769 1.00 0.100 None 0 0
Entrez Id: 6347
Gene Symbol: CCL2
CCL2
P13500 C-C motif chemokine ligand 2 Signaling 1157 0.321 0.962 0.61 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: 286
Gene Symbol: ANK1
ANK1
P16157 ankyrin 1 166 0.540 0.885 1.00 0.100 None 0 0
Entrez Id: 867
Gene Symbol: CBL
CBL
P22681 Cbl proto-oncogene Enzyme 172 0.527 0.769 6.1E-04 0.100 None 0 1
Entrez Id: 1349
Gene Symbol: COX7B
COX7B
P24311 cytochrome c oxidase subunit 7B 104 0.595 0.654 0.67 0.100 None 0 0
Entrez Id: 3209
Gene Symbol: HOXA13
HOXA13
P31271 homeobox A13 126 0.552 0.654 0.96 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: 10225
Gene Symbol: CD96
CD96
P40200 CD96 molecule 109 0.592 0.692 1.4E-11 0.100 None 0 0
Entrez Id: 7474
Gene Symbol: WNT5A
WNT5A
P41221 Wnt family member 5A Signaling 375 0.443 0.808 0.99 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: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
P43034 platelet activating factor acetylhydrolase 1b regulatory subunit 1 219 0.504 0.769 1.00 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: 1725
Gene Symbol: DHPS
DHPS
P49366 deoxyhypusine synthase 62 0.670 0.538 1.6E-04 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: 3984
Gene Symbol: LIMK1
LIMK1
P53667 LIM domain kinase 1 Kinase 271 0.488 0.731 1.00 0.100 None 0 0
Entrez Id: 3052
Gene Symbol: HCCS
HCCS
P53701 holocytochrome c synthase Enzyme 135 0.559 0.731 0.89 0.100 None 0 0