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
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846 20
RSPH4A Q5TD94 radial spoke head component 4A 7.6E-11 0.666 0.538 19
LMNA P02545 lamin A/C 1.00 0.384 0.885 17
PAX6 P26367 paired box 6 1.00 0.450 0.769 17
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808 16
COL4A5 P29400 collagen type IV alpha 5 chain 1.00 0.553 0.654 14
FANCB Q8NB91 FA complementation group B 1.00 0.468 0.769 14
FLNA P21333 filamin A 1.00 0.419 0.846 14
GLA P06280 galactosidase alpha 1.00 0.537 0.769 14
WDR37 Q9Y2I8 WD repeat domain 37 0.57 0.751 0.231 14
FANCA O15360 FA complementation group A 1.6E-68 0.505 0.731 13
FANCC Q00597 FA complementation group C 2.8E-13 0.507 0.808 13
FANCG O15287 FA complementation group G 2.5E-14 0.556 0.769 13
VAMP2 P63027 vesicle associated membrane protein 2 0.89 0.650 0.462 13
TCN2 P20062 transcobalamin 2 1.0E-06 0.578 0.615 13
TREX1 Q9NSU2 three prime repair exonuclease 1 0.58 0.517 0.808 13
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769 13
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769 13
FLCN Q8NFG4 folliculin 0.79 0.537 0.885 13
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846 12
MEN1 O00255 menin 1 1.00 0.444 0.808 12
EIF4A3 P38919 eukaryotic translation initiation factor 4A3 1.00 0.608 0.500 12
NPHP3 Q7Z494 nephrocystin 3 9.8E-16 0.597 0.654 12