Disease: Short nose
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ADAMTSL2 Q86TH1 ADAMTS like 2 Enzyme 1.6E-03 0.666 0.346
B3GLCT Q6Y288 beta 3-glucosyltransferase Enzyme 7.1E-17 0.554 0.731
CHSY1 Q86X52 chondroitin sulfate synthase 1 Enzyme 0.71 0.612 0.615
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
DVL1 O14640 dishevelled segment polarity protein 1 Signaling 3.7E-06 0.531 0.769
DVL3 Q92997 dishevelled segment polarity protein 3 Signaling 0.39 0.537 0.731
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FGD1 P98174 FYVE, RhoGEF and PH domain containing 1 Enzyme modulator 1.00 0.573 0.731
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
FLNA P21333 filamin A 1.00 0.419 0.846
FZD2 Q14332 frizzled class receptor 2 G-protein coupled receptor 0.65 0.558 0.654
GATA1 P15976 GATA binding protein 1 0.95 0.483 0.808
GPC3 P51654 glypican 3 1.00 0.466 0.808
GPC4 O75487 glypican 4 0.93 0.547 0.769
HDAC6 Q9UBN7 histone deacetylase 6 Epigenetic regulator 1.00 0.465 0.846
INPPL1 O15357 inositol polyphosphate phosphatase like 1 2.3E-03 0.590 0.769
KAT6B Q8WYB5 lysine acetyltransferase 6B Enzyme 1.00 0.525 0.731
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
LTBP3 Q9NS15 latent transforming growth factor beta binding protein 3 Calcium-binding protein 0.69 0.564 0.846
MBD5 Q9P267 methyl-CpG binding domain protein 5 1.00 0.581 0.808
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731