Source: HPO

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
B3GLCT Q6Y288 beta 3-glucosyltransferase Enzyme 7.1E-17 0.554 0.731 137
BMPR1B O00238 bone morphogenetic protein receptor type 1B Kinase 1.00 0.573 0.615 85
CANT1 Q8WVQ1 calcium activated nucleotidase 1 2.5E-06 0.619 0.731 75
CHSY1 Q86X52 chondroitin sulfate synthase 1 Enzyme 0.71 0.612 0.615 56
COG4 Q9H9E3 component of oligomeric golgi complex 4 4.0E-09 0.631 0.615 78
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846 261
DYM Q7RTS9 dymeclin 3.6E-13 0.563 0.769 72
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
FLNB O75369 filamin B 6.1E-10 0.458 0.923 173
GDF5 P43026 growth differentiation factor 5 Signaling 0.67 0.511 0.692 149
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885 169
HOXD13 P35453 homeobox D13 8.6E-03 0.483 0.808 94
IFT52 Q9Y366 intraflagellar transport 52 2.0E-06 0.653 0.538 55
KCNJ2 P63252 potassium inwardly rectifying channel subfamily J member 2 Ion channel 0.31 0.572 0.731 57
MAP3K7 O43318 mitogen-activated protein kinase kinase kinase 7 Kinase 1.00 0.477 0.808 95
NPR2 P20594 natriuretic peptide receptor 2 Kinase 4.2E-05 0.573 0.615 46
PDE4D Q08499 phosphodiesterase 4D 1.00 0.519 0.846 72
POC1A Q8NBT0 POC1 centriolar protein A 3.3E-06 0.650 0.500 30
PORCN Q9H237 porcupine O-acyltransferase Enzyme 1.00 0.545 0.692 134
PRKAR1A P10644 protein kinase cAMP-dependent type I regulatory subunit alpha 1.00 0.401 0.846 205
PRMT7 Q9NVM4 protein arginine methyltransferase 7 Epigenetic regulator 5.5E-15 0.674 0.538 32
PTHLH P12272 parathyroid hormone like hormone 0.81 0.453 0.846 13