Disease: Short foot
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
B3GLCT Q6Y288 beta 3-glucosyltransferase Enzyme 7.1E-17 0.554 0.731
BMP2 P12643 bone morphogenetic protein 2 Signaling 0.99 0.432 0.846
CCBE1 Q6UXH8 collagen and calcium binding EGF domains 1 Calcium-binding protein 1.5E-07 0.585 0.769
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
CUL4B Q13620 cullin 4B Enzyme 1.00 0.556 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
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
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846
GABRD O14764 gamma-aminobutyric acid type A receptor subunit delta Ion channel 0.99 0.558 0.692
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
GPC3 P51654 glypican 3 1.00 0.466 0.808
GPC4 O75487 glypican 4 0.93 0.547 0.769
HDAC4 P56524 histone deacetylase 4 Epigenetic regulator 1.00 0.484 0.885
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
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
KCNAB2 Q13303 potassium voltage-gated channel subfamily A regulatory beta subunit 2 Ion channel 0.80 0.593 0.692
KLHL7 Q8IXQ5 kelch like family member 7 4.6E-05 0.581 0.731