Source: GENOMICS_ENGLAND

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
VHL P40337 von Hippel-Lindau tumor suppressor Enzyme 8.0E-02 0.443 0.846 22
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769 13
MKS1 Q9NXB0 MKS transition zone complex subunit 1 Extracellular structure 3.4E-16 0.505 0.769 13
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769 13
NPHP3 Q7Z494 nephrocystin 3 9.8E-16 0.597 0.654 12
RPE65 Q16518 retinoid isomerohydrolase RPE65 Enzyme 6.5E-14 0.417 0.808 11
NKX2-5 P52952 NK2 homeobox 5 Transcription factor 0.95 0.533 0.692 10
UMOD P07911 uromodulin 3.1E-17 0.520 0.846 10
ZIC3 O60481 Zic family member 3 Transcription factor 0.92 0.587 0.423 10
ARL6 Q9H0F7 ADP ribosylation factor like GTPase 6 1.0E-02 0.636 0.462 9
CC2D2A Q9P2K1 coiled-coil and C2 domain containing 2A 1.7E-27 0.532 0.692 9
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808 9
WDR19 Q8NEZ3 WD repeat domain 19 4.6E-11 0.554 0.769 9
CDH23 Q9H251 cadherin related 23 3.2E-06 0.539 0.769 8
CFTR P13569 CF transmembrane conductance regulator Ion channel 2.2E-58 0.424 0.885 8
RPGR Q92834 retinitis pigmentosa GTPase regulator 1.00 0.536 0.692 8
RPGRIP1L Q68CZ1 RPGRIP1 like Enzyme modulator 4.1E-31 0.534 0.769 8
SDCCAG8 Q86SQ7 serologically defined colon cancer antigen 8 1.2E-11 0.619 0.577 8
TCTN2 Q96GX1 tectonic family member 2 1.8E-14 0.578 0.654 8
TMEM216 Q9P0N5 transmembrane protein 216 1.9E-03 0.544 0.615 8
TTC8 Q8TAM2 tetratricopeptide repeat domain 8 1.2E-06 0.631 0.500 8
USH2A O75445 usherin Enzyme modulator 1.6E-94 0.579 0.692 8
BBS2 Q9BXC9 Bardet-Biedl syndrome 2 1.0E-17 0.565 0.654 7
CRB1 P82279 crumbs cell polarity complex component 1 5.6E-16 0.570 0.654 7