Disease: Macrocephaly
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AKT1 P31749 AKT serine/threonine kinase 1 Kinase 0.98 0.311 0.962
ANTXR2 P58335 ANTXR cell adhesion molecule 2 Receptor 8.7E-02 0.568 0.808
B3GLCT Q6Y288 beta 3-glucosyltransferase Enzyme 7.1E-17 0.554 0.731
BBS1 Q8NFJ9 Bardet-Biedl syndrome 1 3.4E-12 0.593 0.692
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
C12orf57 Q99622 chromosome 12 open reading frame 57 5.2E-05 0.641 0.500
CAMK2G Q13555 calcium/calmodulin dependent protein kinase II gamma Kinase 1.00 0.670 0.462
CCDC22 O60826 coiled-coil domain containing 22 1.00 0.595 0.692
CCDC28B Q9BUN5 coiled-coil domain containing 28B Receptor 3.2E-09 0.659 0.538
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
CWC27 Q6UX04 CWC27 spliceosome associated cyclophilin Enzyme 4.6E-07 0.722 0.346
DVL1 O14640 dishevelled segment polarity protein 1 Signaling 3.7E-06 0.531 0.769
DVL3 Q92997 dishevelled segment polarity protein 3 Signaling 0.39 0.537 0.731
DYNC2H1 Q8NCM8 dynein cytoplasmic 2 heavy chain 1 Enzyme 1.1E-44 0.555 0.731
FAM111A Q96PZ2 family with sequence similarity 111 member A 2.2E-03 0.663 0.462
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
FZD2 Q14332 frizzled class receptor 2 G-protein coupled receptor 0.65 0.558 0.654
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
GLI3 P10071 GLI family zinc finger 3 1.00 0.436 0.846
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
GPC4 O75487 glypican 4 0.93 0.547 0.769
HDAC4 P56524 histone deacetylase 4 Epigenetic regulator 1.00 0.484 0.885