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: 2261
Gene Symbol: FGFR3
FGFR3
P22607 fibroblast growth factor receptor 3 Kinase 654 0.391 0.846 1.6E-05 0.110 None 1.000 1 1 1998 1998
Entrez Id: 64840
Gene Symbol: PORCN
PORCN
Q9H237 porcupine O-acyltransferase Enzyme 162 0.545 0.692 1.00 0.100 None 0 0
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
O43502 RAD51 paralog C 162 0.533 0.692 6.2E-14 0.100 None 0 0
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
Q06609 RAD51 recombinase 363 0.447 0.846 2.7E-02 0.100 None 0 0
Entrez Id: 58513
Gene Symbol: EPS15L1
EPS15L1
Q9UBC2 epidermal growth factor receptor pathway substrate 15 like 1 Enzyme modulator 17 0.743 0.385 1.00 0.100 None 0 0
Entrez Id: 585
Gene Symbol: BBS4
BBS4
Q96RK4 Bardet-Biedl syndrome 4 63 0.647 0.615 1.5E-16 0.100 None 0 0
Entrez Id: 583
Gene Symbol: BBS2
BBS2
Q9BXC9 Bardet-Biedl syndrome 2 128 0.565 0.654 1.0E-17 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: 5818
Gene Symbol: NECTIN1
NECTIN1
Q15223 nectin cell adhesion molecule 1 196 0.523 0.808 6.1E-02 0.100 None 0 0
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
Q8NEZ3 WD repeat domain 19 143 0.554 0.769 4.6E-11 0.100 None 0 0
Entrez Id: 5925
Gene Symbol: RB1
RB1
P06400 RB transcriptional corepressor 1 Nucleic acid binding 339 0.444 0.885 1.00 0.100 None 0 0
Entrez Id: 5980
Gene Symbol: REV3L
REV3L
O60673 REV3 like, DNA directed polymerase zeta catalytic subunit 95 0.588 0.654 1.00 0.100 None 0 0
Entrez Id: 6469
Gene Symbol: SHH
SHH
Q15465 sonic hedgehog signaling molecule 303 0.461 0.846 0.98 0.100 None 0 0
Entrez Id: 64359
Gene Symbol: NXN
NXN
Q6DKJ4 nucleoredoxin 117 0.584 0.577 1.00 0.100 None 0 0
Entrez Id: 64327
Gene Symbol: LMBR1
LMBR1
Q8WVP7 limb development membrane protein 1 Receptor 98 0.619 0.308 1.3E-08 0.100 None 0 0
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 247 0.505 0.769 1.00 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: 64093
Gene Symbol: SMOC1
SMOC1
Q9H4F8 SPARC related modular calcium binding 1 Calcium-binding protein 135 0.565 0.846 9.5E-03 0.100 None 0 0
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 224 0.529 0.769 8.1E-07 0.100 None 0 0
Entrez Id: 6134
Gene Symbol: RPL10
RPL10
P27635 ribosomal protein L10 Nucleic acid binding 116 0.568 0.731 0.91 0.100 None 0 0
Entrez Id: 57697
Gene Symbol: FANCM
FANCM
Q8IYD8 FA complementation group M Enzyme 147 0.543 0.731 2.4E-15 0.100 None 0 0
Entrez Id: 57572
Gene Symbol: DOCK6
DOCK6
Q96HP0 dedicator of cytokinesis 6 Enzyme modulator 84 0.610 0.577 1.3E-26 0.100 None 0 0
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
Q6W2J9 BCL6 corepressor 314 0.471 0.808 1.00 0.100 None 0 0
Entrez Id: 54585
Gene Symbol: LZTFL1
LZTFL1
Q9NQ48 leucine zipper transcription factor like 1 64 0.638 0.692 5.9E-02 0.100 None 0 0
Entrez Id: 54567
Gene Symbol: DLL4
DLL4
Q9NR61 delta like canonical Notch ligand 4 219 0.494 0.769 1.00 0.100 None 0 0