Disease: Disproportionate short stature
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACAN P16112 aggrecan Extracellular structure 1.00 0.528 0.846
ACP5 P13686 acid phosphatase 5, tartrate resistant 7.9E-02 0.561 0.731
ANKH Q9HCJ1 ANKH inorganic pyrophosphate transport regulator Transporter 0.28 0.606 0.692
BMPR1B O00238 bone morphogenetic protein receptor type 1B Kinase 1.00 0.573 0.615
CHST3 Q7LGC8 carbohydrate sulfotransferase 3 7.2E-03 0.517 0.846
COL10A1 Q03692 collagen type X alpha 1 chain Extracellular structure 3.0E-05 0.619 0.500
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
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
COL9A1 P20849 collagen type IX alpha 1 chain 3.1E-19 0.566 0.731
COL9A2 Q14055 collagen type IX alpha 2 chain 1.0E-08 0.572 0.769
COMP P49747 cartilage oligomeric matrix protein 1.3E-09 0.503 0.808
CTSK P43235 cathepsin K Enzyme 3.1E-05 0.497 0.808
DDRGK1 Q96HY6 DDRGK domain containing 1 3.1E-07 0.736 0.269
DYM Q7RTS9 dymeclin 3.6E-13 0.563 0.769
DYNC2H1 Q8NCM8 dynein cytoplasmic 2 heavy chain 1 Enzyme 1.1E-44 0.555 0.731
EIF2AK3 Q9NZJ5 eukaryotic translation initiation factor 2 alpha kinase 3 Kinase 2.8E-03 0.501 0.808
EXTL3 O43909 exostosin like glycosyltransferase 3 2.5E-05 0.599 0.731
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885
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
FLNB O75369 filamin B 6.1E-10 0.458 0.923
GDF5 P43026 growth differentiation factor 5 Signaling 0.67 0.511 0.692