Disease: Macrocephaly
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABCC9 O60706 ATP binding cassette subfamily C member 9 Transporter 9.4E-09 0.552 0.692
AMER1 Q5JTC6 APC membrane recruitment protein 1 0.85 0.570 0.654
AP1S2 P56377 adaptor related protein complex 1 subunit sigma 2 Transporter 0.87 0.631 0.615
APC2 O95996 APC regulator of WNT signaling pathway 2 1.00 0.582 0.654
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
B3GLCT Q6Y288 beta 3-glucosyltransferase Enzyme 7.1E-17 0.554 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
CCND2 P30279 cyclin D2 Enzyme modulator 0.99 0.477 0.808
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
CHD3 Q12873 chromodomain helicase DNA binding protein 3 1.00 0.670 0.577
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
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
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
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
ERMARD Q5T6L9 ER membrane associated RNA degradation 5.8E-16 0.647 0.538
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
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808