Disease: Macrocephaly
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
DVL1 O14640 dishevelled segment polarity protein 1 Signaling 3.7E-06 0.531 0.769
ABCC9 O60706 ATP binding cassette subfamily C member 9 Transporter 9.4E-09 0.552 0.692
OPHN1 O60890 oligophrenin 1 Enzyme modulator 1.00 0.633 0.538
LRP4 O75096 LDL receptor related protein 4 1.4E-06 0.568 0.692
GPC4 O75487 glypican 4 0.93 0.547 0.769
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
APC2 O95996 APC regulator of WNT signaling pathway 2 1.00 0.582 0.654
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
CCND2 P30279 cyclin D2 Enzyme modulator 0.99 0.477 0.808
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
WNT5A P41221 Wnt family member 5A Signaling 0.99 0.443 0.808
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
KCNJ1 P48048 potassium inwardly rectifying channel subfamily J member 1 Ion channel 4.6E-05 0.619 0.577
PTDSS1 P48651 phosphatidylserine synthase 1 Enzyme 0.15 0.610 0.615
PEX5 P50542 peroxisomal biogenesis factor 5 Transporter 5.6E-05 0.561 0.731
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
CLCN7 P51798 chloride voltage-gated channel 7 Ion channel 0.27 0.590 0.731
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
AP1S2 P56377 adaptor related protein complex 1 subunit sigma 2 Transporter 0.87 0.631 0.615
PPP1CB P62140 protein phosphatase 1 catalytic subunit beta Enzyme 1.00 0.601 0.577