Disease: Short foot
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
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
CCDC47 Q96A33 coiled-coil domain containing 47 6.1E-08 0.678 0.462
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846
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
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
KCNAB2 Q13303 potassium voltage-gated channel subfamily A regulatory beta subunit 2 Ion channel 0.80 0.593 0.692
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
LAS1L Q9Y4W2 LAS1 like ribosome biogenesis factor 1.00 0.682 0.654
LIG4 P49917 DNA ligase 4 4.2E-06 0.478 0.846
MBD5 Q9P267 methyl-CpG binding domain protein 5 1.00 0.581 0.808
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
NGLY1 Q96IV0 N-glycanase 1 Enzyme 1.5E-13 0.601 0.654
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
PIGL Q9Y2B2 phosphatidylinositol glycan anchor biosynthesis class L 6.2E-09 0.581 0.731
PRDM16 Q9HAZ2 PR/SET domain 16 1.00 0.522 0.808
PTH1R Q03431 parathyroid hormone 1 receptor G-protein coupled receptor 0.57 0.544 0.731
RAD21 O60216 RAD21 cohesin complex component 1.00 0.528 0.846
RERE Q9P2R6 arginine-glutamic acid dipeptide repeats 1.00 0.526 0.846