Source: HPO

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885 303
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808 301
FLNA P21333 filamin A 1.00 0.419 0.846 298
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846 261
PRKAR1A P10644 protein kinase cAMP-dependent type I regulatory subunit alpha 1.00 0.401 0.846 205
FLNB O75369 filamin B 6.1E-10 0.458 0.923 173
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885 169
GDF5 P43026 growth differentiation factor 5 Signaling 0.67 0.511 0.692 149
B3GLCT Q6Y288 beta 3-glucosyltransferase Enzyme 7.1E-17 0.554 0.731 137
PORCN Q9H237 porcupine O-acyltransferase Enzyme 1.00 0.545 0.692 134
TCF4 P15884 transcription factor 4 Transcription factor 1.00 0.464 0.846 126
SRY Q05066 sex determining region Y Transcription factor 0.456 0.808 105
TRPS1 Q9UHF7 transcriptional repressor GATA binding 1 1.00 0.537 0.769 100
MAP3K7 O43318 mitogen-activated protein kinase kinase kinase 7 Kinase 1.00 0.477 0.808 95
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769 95
HOXD13 P35453 homeobox D13 8.6E-03 0.483 0.808 94
SALL1 Q9NSC2 spalt like transcription factor 1 Transcription factor 1.00 0.539 0.808 88
BMPR1B O00238 bone morphogenetic protein receptor type 1B Kinase 1.00 0.573 0.615 85
COG4 Q9H9E3 component of oligomeric golgi complex 4 4.0E-09 0.631 0.615 78
CANT1 Q8WVQ1 calcium activated nucleotidase 1 2.5E-06 0.619 0.731 75
DYM Q7RTS9 dymeclin 3.6E-13 0.563 0.769 72
PDE4D Q08499 phosphodiesterase 4D 1.00 0.519 0.846 72
SMARCA2 P51531 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 Epigenetic regulator 1.00 0.527 0.769 68
SIL1 Q9H173 SIL1 nucleotide exchange factor 1.2E-02 0.584 0.731 64