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: 80184
Gene Symbol: CEP290
CEP290
O15078 centrosomal protein 290 196 0.517 0.769 1.1E-60 0.100 None 0 0
Entrez Id: 5116
Gene Symbol: PCNT
PCNT
O95613 pericentrin 156 0.564 0.808 4.0E-58 0.100 None 0 0
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L
Q68CZ1 RPGRIP1 like Enzyme modulator 170 0.534 0.769 4.1E-31 0.100 None 0 0
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
Q1MSJ5 centrosome and spindle pole associated protein 1 170 0.544 0.769 3.3E-29 0.100 None 0 0
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
Q9P2K1 coiled-coil and C2 domain containing 2A 167 0.532 0.692 1.7E-27 0.100 None 0 0
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: 91147
Gene Symbol: TMEM67
TMEM67
Q5HYA8 transmembrane protein 67 215 0.512 0.769 2.1E-24 0.100 None 0 0
Entrez Id: 55764
Gene Symbol: IFT122
IFT122
Q9HBG6 intraflagellar transport 122 135 0.560 0.846 2.4E-24 0.100 None 0 0
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
Q96KN7 RPGR interacting protein 1 Enzyme modulator 121 0.553 0.654 1.3E-23 0.100 None 0 0
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
Q9P2L0 WD repeat domain 35 188 0.525 0.692 1.0E-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: 23556
Gene Symbol: PIGN
PIGN
O95427 phosphatidylinositol glycan anchor biosynthesis class N Extracellular structure 173 0.558 0.615 2.3E-21 0.100 None 0 0
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2
P98160 heparan sulfate proteoglycan 2 Enzyme modulator 405 0.438 0.885 1.0E-19 0.100 None 0 0
Entrez Id: 91754
Gene Symbol: NEK9
NEK9
Q8TD19 NIMA related kinase 9 Kinase 67 0.623 0.500 8.2E-18 0.100 None 0 0
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
Q9NXB0 MKS transition zone complex subunit 1 Extracellular structure 231 0.505 0.769 3.4E-16 0.100 None 0 0
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
Q8IXJ9 ASXL transcriptional regulator 1 296 0.482 0.808 1.3E-14 0.100 None 0 1
Entrez Id: 79867
Gene Symbol: TCTN2
TCTN2
Q96GX1 tectonic family member 2 109 0.578 0.654 1.8E-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: 259232
Gene Symbol: NALCN
NALCN
Q8IZF0 sodium leak channel, non-selective Ion channel 143 0.587 0.615 8.5E-14 0.100 None 0 0
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
P35475 alpha-L-iduronidase Enzyme 258 0.499 0.846 3.8E-13 0.100 None 0 0
Entrez Id: 55165
Gene Symbol: CEP55
CEP55
Q53EZ4 centrosomal protein 55 134 0.534 0.731 2.0E-12 0.100 None 0 0
Entrez Id: 6452
Gene Symbol: SH3BP2
SH3BP2
P78314 SH3 domain binding protein 2 65 0.623 0.654 1.2E-11 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: 51057
Gene Symbol: WDPCP
WDPCP
O95876 WD repeat containing planar cell polarity effector 105 0.576 0.769 1.1E-10 0.100 None 0 0
Entrez Id: 23483
Gene Symbol: TGDS
TGDS
O95455 TDP-glucose 4,6-dehydratase 63 0.644 0.538 2.5E-09 0.100 None 0 0