Source: GENOMICS_ENGLAND

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
COL4A1 P02462 collagen type IV alpha 1 chain 1.00 0.484 0.731 21
ABHD12 Q8N2K0 abhydrolase domain containing 12 Enzyme 1.9E-05 0.666 0.385 20
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846 20
PAX6 P26367 paired box 6 1.00 0.450 0.769 17
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
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846 12
NPHP3 Q7Z494 nephrocystin 3 9.8E-16 0.597 0.654 12
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846 11
RPE65 Q16518 retinoid isomerohydrolase RPE65 Enzyme 6.5E-14 0.417 0.808 11
WT1 P19544 WT1 transcription factor Nucleic acid binding 1.00 0.422 0.808 11
COL9A2 Q14055 collagen type IX alpha 2 chain 1.0E-08 0.572 0.769 10
LRP5 O75197 LDL receptor related protein 5 0.51 0.485 0.846 10
ABCA4 P78363 ATP binding cassette subfamily A member 4 Transporter 5.3E-48 0.493 0.769 9
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
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808 9
PITX2 Q99697 paired like homeodomain 2 0.98 0.489 0.808 9
WFS1 O76024 wolframin ER transmembrane glycoprotein 1.6E-38 0.528 0.846 9
BEST1 O76090 bestrophin 1 Ion channel 1.8E-12 0.465 0.885 8
CDH23 Q9H251 cadherin related 23 3.2E-06 0.539 0.769 8
FOXC1 Q12948 forkhead box C1 Transcription factor 0.95 0.483 0.846 8