Disease: Macrocephaly
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ADK P55263 adenosine kinase Kinase 3.1E-04 0.584 0.769
AMER1 Q5JTC6 APC membrane recruitment protein 1 0.85 0.570 0.654
APC2 O95996 APC regulator of WNT signaling pathway 2 1.00 0.582 0.654
B3GLCT Q6Y288 beta 3-glucosyltransferase Enzyme 7.1E-17 0.554 0.731
BMPR1A P36894 bone morphogenetic protein receptor type 1A Kinase 0.90 0.522 0.731
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
BRWD3 Q6RI45 bromodomain and WD repeat domain containing 3 1.00 0.716 0.538
C12orf57 Q99622 chromosome 12 open reading frame 57 5.2E-05 0.641 0.500
CCDC22 O60826 coiled-coil domain containing 22 1.00 0.595 0.692
CHD1 O14646 chromodomain helicase DNA binding protein 1 1.00 0.628 0.692
CHD3 Q12873 chromodomain helicase DNA binding protein 3 1.00 0.670 0.577
CHRNA7 P36544 Q494W8 cholinergic receptor nicotinic alpha 7 subunit Ion channel 4.2E-04 0.532 0.654
CLCN7 P51798 chloride voltage-gated channel 7 Ion channel 0.27 0.590 0.731
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
CRPPA A4D126 CDP-L-ribitol pyrophosphorylase A 2.5E-04 0.566 0.654
CWC27 Q6UX04 CWC27 spliceosome associated cyclophilin Enzyme 4.6E-07 0.722 0.346
D2HGDH Q8N465 D-2-hydroxyglutarate dehydrogenase 5.4E-02 0.691 0.500
DHCR24 Q15392 24-dehydrocholesterol reductase Enzyme 3.1E-02 0.498 0.769
DICER1 Q9UPY3 dicer 1, ribonuclease III Enzyme 1.00 0.446 0.846
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
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