Disease: Micromelia
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
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ALPL P05186 alkaline phosphatase, biomineralization associated Enzyme 3.6E-04 0.546 0.769
BMPR1B O00238 bone morphogenetic protein receptor type 1B Kinase 1.00 0.573 0.615
CEP120 Q8N960 centrosomal protein 120 4.1E-15 0.564 0.731
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
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
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
DYNC2LI1 Q8TCX1 dynein cytoplasmic 2 light intermediate chain 1 Cellular structure 3.2E-09 0.601 0.500
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
FZD2 Q14332 frizzled class receptor 2 G-protein coupled receptor 0.65 0.558 0.654
GDF5 P43026 growth differentiation factor 5 Signaling 0.67 0.511 0.692
GLI3 P10071 GLI family zinc finger 3 1.00 0.436 0.846
HSPG2 P98160 heparan sulfate proteoglycan 2 Enzyme modulator 1.0E-19 0.438 0.885
IFT140 Q96RY7 intraflagellar transport 140 Cellular structure 9.9E-24 0.572 0.692
IFT172 Q9UG01 intraflagellar transport 172 Cellular structure 3.3E-33 0.582 0.654