Source: GENOMICS_ENGLAND

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
ACBD5 Q5T8D3 acyl-CoA binding domain containing 5 Enzyme modulator 6.1E-03 0.931 0.192 1
AMER1 Q5JTC6 APC membrane recruitment protein 1 0.85 0.570 0.654 2
ATN1 P54259 atrophin 1 1.00 0.409 0.885 9
BMP2 P12643 bone morphogenetic protein 2 Signaling 0.99 0.432 0.846 4
CTNND1 O60716 catenin delta 1 Cellular structure 1.00 0.500 0.808 1
CHD1 O14646 chromodomain helicase DNA binding protein 1 1.00 0.628 0.692 2
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846 20
COL9A1 P20849 collagen type IX alpha 1 chain 3.1E-19 0.566 0.731 7
COL9A2 Q14055 collagen type IX alpha 2 chain 1.0E-08 0.572 0.769 10
COL9A3 Q14050 collagen type IX alpha 3 chain 3.3E-12 0.569 0.769 8
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846 12
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846 11
EDN1 P05305 endothelin 1 Signaling 0.46 0.380 0.846 3
EDNRA P25101 endothelin receptor type A G-protein coupled receptor 0.99 0.426 0.885 6
EIF4A3 P38919 eukaryotic translation initiation factor 4A3 1.00 0.608 0.500 12
FOXC2 Q99958 forkhead box C2 Transcription factor 0.13 0.515 0.731 4
FOXE1 O00358 forkhead box E1 Transcription factor 0.79 0.573 0.731 6
GNAI3 P08754 G protein subunit alpha i3 Enzyme modulator 3.8E-02 0.653 0.615 6
HOXA2 O43364 homeobox A2 0.20 0.700 0.385 2
INTS1 Q8N201 integrator complex subunit 1 7.1E-11 0.666 0.500 5
IRF6 O14896 interferon regulatory factor 6 Transcription factor 1.00 0.486 0.769 9
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538 4
MEIS2 O14770 Meis homeobox 2 Enzyme 1.00 0.601 0.808 6
NEDD4L Q96PU5 NEDD4 like E3 ubiquitin protein ligase Enzyme 1.00 0.573 0.731 3