Disease: Hypoplastic feet
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
COL3A1 P02461 collagen type III alpha 1 chain 1.00 0.477 0.808
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FBXO11 Q86XK2 F-box protein 11 Enzyme 1.00 0.604 0.692
FMR1 Q06787 FMRP translational regulator 1 Nucleic acid binding 0.65 0.473 0.769
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
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
IGF1R P08069 insulin like growth factor 1 receptor Kinase 0.97 0.399 0.885
KCNAB2 Q13303 potassium voltage-gated channel subfamily A regulatory beta subunit 2 Ion channel 0.80 0.593 0.692
KDM5C P41229 lysine demethylase 5C 1.00 0.581 0.538
LAS1L Q9Y4W2 LAS1 like ribosome biogenesis factor 1.00 0.682 0.654
MAPK8IP3 Q9UPT6 mitogen-activated protein kinase 8 interacting protein 3 Enzyme modulator 1.00 0.682 0.462
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
PRDM16 Q9HAZ2 PR/SET domain 16 1.00 0.522 0.808
RERE Q9P2R6 arginine-glutamic acid dipeptide repeats 1.00 0.526 0.846
SKI P12755 SKI proto-oncogene 1.00 0.503 0.808
SON P18583 SON DNA binding protein 1.00 0.565 0.769
TBCE Q15813 tubulin folding cofactor E Chaperone 1.7E-08 0.575 0.692
TBL1XR1 Q9BZK7 TBL1X receptor 1 1.00 0.534 0.808
TRRAP Q9Y4A5 transformation/transcription domain associated protein 1.00 0.572 0.692