Disease: Frontal bossing
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
ALG9 Q9H6U8 ALG9 alpha-1,2-mannosyltransferase Enzyme 6.4E-04 0.644 0.654
ALPL P05186 alkaline phosphatase, biomineralization associated Enzyme 3.6E-04 0.546 0.769
AMER1 Q5JTC6 APC membrane recruitment protein 1 0.85 0.570 0.654
B3GAT3 O94766 beta-1,3-glucuronyltransferase 3 Enzyme 2.7E-08 0.621 0.538
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
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
CTSK P43235 cathepsin K Enzyme 3.1E-05 0.497 0.808
DYNC2H1 Q8NCM8 dynein cytoplasmic 2 heavy chain 1 Enzyme 1.1E-44 0.555 0.731
EBP Q15125 EBP cholestenol delta-isomerase Enzyme 0.94 0.494 0.846
ERF P50548 ETS2 repressor factor Transcription factor 0.99 0.572 0.654
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
FZD2 Q14332 frizzled class receptor 2 G-protein coupled receptor 0.65 0.558 0.654
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
GLB1 P16278 galactosidase beta 1 Enzyme 7.9E-10 0.448 0.808
GLI3 P10071 GLI family zinc finger 3 1.00 0.436 0.846
HBB P68871 hemoglobin subunit beta 1.2E-09 0.494 0.808
IDUA P35475 alpha-L-iduronidase Enzyme 3.8E-13 0.499 0.846