Disease: Clinodactyly of the 5th finger
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
BMPR1B O00238 bone morphogenetic protein receptor type 1B Kinase 1.00 0.573 0.615
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
CENPE Q02224 centromere protein E Cellular structure 0.24 0.636 0.692
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
CUL4B Q13620 cullin 4B Enzyme 1.00 0.556 0.769
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
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
IHH Q14623 Indian hedgehog signaling molecule 0.31 0.573 0.538
KCNAB2 Q13303 potassium voltage-gated channel subfamily A regulatory beta subunit 2 Ion channel 0.80 0.593 0.692
KCNJ2 P63252 potassium inwardly rectifying channel subfamily J member 2 Ion channel 0.31 0.572 0.731
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
LIG4 P49917 DNA ligase 4 4.2E-06 0.478 0.846