Source: GENOMICS_ENGLAND

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808 18
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846 17
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885 14
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769 13
GDF5 P43026 growth differentiation factor 5 Signaling 0.67 0.511 0.692 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
TBX22 Q9Y458 T-box transcription factor 22 Transcription factor 0.98 0.603 0.577 10
ARL6 Q9H0F7 ADP ribosylation factor like GTPase 6 1.0E-02 0.636 0.462 9
BMP4 P12644 bone morphogenetic protein 4 Signaling 0.96 0.422 0.808 9
CC2D2A Q9P2K1 coiled-coil and C2 domain containing 2A 1.7E-27 0.532 0.692 9
GLI3 P10071 GLI family zinc finger 3 1.00 0.436 0.846 9
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808 9
SHH Q15465 sonic hedgehog signaling molecule 0.98 0.461 0.846 9
HOXD13 P35453 homeobox D13 8.6E-03 0.483 0.808 8
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923 8
RPGRIP1L Q68CZ1 RPGRIP1 like Enzyme modulator 4.1E-31 0.534 0.769 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
BBS2 Q9BXC9 Bardet-Biedl syndrome 2 1.0E-17 0.565 0.654 7
FREM2 Q5SZK8 FRAS1 related extracellular matrix 2 3.6E-11 0.566 0.577 7
IFT80 Q9P2H3 intraflagellar transport 80 1.4E-19 0.575 0.692 7