Disease: Disproportionate short stature
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
CUL7 Q14999 cullin 7 2.6E-21 0.633 0.500
DDR2 Q16832 discoidin domain receptor tyrosine kinase 2 Kinase 0.55 0.541 0.769
DDRGK1 Q96HY6 DDRGK domain containing 1 3.1E-07 0.736 0.269
DYNC2H1 Q8NCM8 dynein cytoplasmic 2 heavy chain 1 Enzyme 1.1E-44 0.555 0.731
EVC P57679 EvC ciliary complex subunit 1 3.5E-25 0.587 0.577
EVC2 Q86UK5 EvC ciliary complex subunit 2 1.0E-34 0.585 0.692
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846
FLNA P21333 filamin A 1.00 0.419 0.846
GLI3 P10071 GLI family zinc finger 3 1.00 0.436 0.846
IFT122 Q9HBG6 intraflagellar transport 122 2.4E-24 0.560 0.846
IFT80 Q9P2H3 intraflagellar transport 80 1.4E-19 0.575 0.692
IHH Q14623 Indian hedgehog signaling molecule 0.31 0.573 0.538
LBR Q14739 lamin B receptor Enzyme 0.18 0.473 0.808
NEK1 Q96PY6 NIMA related kinase 1 Kinase 1.9E-25 0.575 0.769
NKX3-2 P78367 NK3 homeobox 2 Transcription factor 0.64 0.736 0.308
PTH1R Q03431 parathyroid hormone 1 receptor G-protein coupled receptor 0.57 0.544 0.731
RUNX2 Q13950 RUNX family transcription factor 2 Transcription factor 0.95 0.437 0.846
SLC26A2 P50443 solute carrier family 26 member 2 Transporter 7.5E-07 0.553 0.692
SLC35D1 Q9NTN3 solute carrier family 35 member D1 Transporter 3.6E-04 0.736 0.385
TRIP11 Q15643 thyroid hormone receptor interactor 11 1.7E-12 0.595 0.654
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808
WDR35 Q9P2L0 WD repeat domain 35 1.0E-22 0.525 0.692