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 0.808 381
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846 327
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846 325
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846 307
FLNA P21333 filamin A 1.00 0.419 0.846 298
PTCH1 Q13635 patched 1 1.00 0.398 0.885 262
ELN P15502 elastin 2.1E-14 0.415 0.885 257
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808 218
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769 216
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731 209
SUFU Q9UMX1 SUFU negative regulator of hedgehog signaling 1.00 0.493 0.769 209
TBX1 O43435 T-box transcription factor 1 Transcription factor 0.84 0.433 0.808 207
PIEZO2 Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 8.1E-07 0.529 0.769 187
SKI P12755 SKI proto-oncogene 1.00 0.503 0.808 171
JMJD1C Q15652 jumonji domain containing 1C 1.00 0.517 0.769 169
GP1BB P13224 glycoprotein Ib platelet subunit beta 0.51 0.524 0.769 164
RREB1 Q92766 ras responsive element binding protein 1 1.00 0.500 0.808 159
TGFBR2 P37173 transforming growth factor beta receptor 2 Kinase 0.13 0.413 0.846 159
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846 158
COMT P21964 catechol-O-methyltransferase Enzyme 1.1E-06 0.400 0.923 140
ARVCF O00192 ARVCF delta catenin family member Cellular structure 5.0E-11 0.540 0.769 139
SMAD3 P84022 SMAD family member 3 Transcription factor 0.80 0.415 0.923 137
SON P18583 SON DNA binding protein 1.00 0.565 0.769 132
SIN3A Q96ST3 SIN3 transcription regulator family member A Enzyme 1.00 0.551 0.692 131