Disease: Hypoplastic feet
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
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
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
CUL4B Q13620 cullin 4B Enzyme 1.00 0.556 0.769
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
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
GABBR2 O75899 gamma-aminobutyric acid type B receptor subunit 2 G-protein coupled receptor 1.00 0.650 0.538
GABRD O14764 gamma-aminobutyric acid type A receptor subunit delta Ion channel 0.99 0.558 0.692
GDF5 P43026 growth differentiation factor 5 Signaling 0.67 0.511 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
IGHMBP2 P38935 immunoglobulin mu DNA binding protein 2 3.0E-16 0.636 0.615
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
KLHL7 Q8IXQ5 kelch like family member 7 4.6E-05 0.581 0.731
LMBR1 Q8WVP7 limb development membrane protein 1 Receptor 1.3E-08 0.619 0.308
MAP3K7 O43318 mitogen-activated protein kinase kinase kinase 7 Kinase 1.00 0.477 0.808
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
NOG Q13253 noggin 0.89 0.518 0.731
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731