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
B3GLCT Q6Y288 beta 3-glucosyltransferase Enzyme 7.1E-17 0.554 0.731
CEP120 Q8N960 centrosomal protein 120 4.1E-15 0.564 0.731
CILK1 Q9UPZ9 ciliogenesis associated kinase 1 Kinase 1.3E-05 0.545 0.808
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
CRTAP O75718 cartilage associated protein Extracellular structure 5.5E-04 0.636 0.654
DHCR24 Q15392 24-dehydrocholesterol reductase Enzyme 3.1E-02 0.498 0.769
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 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
GPC6 Q9Y625 glypican 6 0.14 0.626 0.654
IFT43 Q96FT9 intraflagellar transport 43 1.8E-11 0.617 0.577
IFT80 Q9P2H3 intraflagellar transport 80 1.4E-19 0.575 0.692
INPPL1 O15357 inositol polyphosphate phosphatase like 1 2.3E-03 0.590 0.769
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
LBR Q14739 lamin B receptor Enzyme 0.18 0.473 0.808
PTH1R Q03431 parathyroid hormone 1 receptor G-protein coupled receptor 0.57 0.544 0.731
RMRP RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
TRIP11 Q15643 thyroid hormone receptor interactor 11 1.7E-12 0.595 0.654