Disease: Macrocephaly
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
FZD2 Q14332 frizzled class receptor 2 G-protein coupled receptor 0.65 0.558 0.654
GATAD2B Q8WXI9 GATA zinc finger domain containing 2B Nucleic acid binding 1.00 0.593 0.654
GCDH Q92947 glutaryl-CoA dehydrogenase 4.9E-03 0.691 0.385
GPC4 O75487 glypican 4 0.93 0.547 0.769
HERC1 Q15751 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 Enzyme modulator 1.00 0.674 0.500
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
INPP5E Q9NRR6 inositol polyphosphate-5-phosphatase E 3.1E-03 0.561 0.615
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
LBR Q14739 lamin B receptor Enzyme 0.18 0.473 0.808
LRP4 O75096 LDL receptor related protein 4 1.4E-06 0.568 0.692
KMT2E Q8IZD2 lysine methyltransferase 2E 1.00 0.682 0.423
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808
NFIX Q14938 nuclear factor I X Nucleic acid binding 1.00 0.547 0.769
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
OPHN1 O60890 oligophrenin 1 Enzyme modulator 1.00 0.633 0.538
PTCH1 Q13635 patched 1 1.00 0.398 0.885
PEX5 P50542 peroxisomal biogenesis factor 5 Transporter 5.6E-05 0.561 0.731
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731
PTDSS1 P48651 phosphatidylserine synthase 1 Enzyme 0.15 0.610 0.615
POC1A Q8NBT0 POC1 centriolar protein A 3.3E-06 0.650 0.500
KCNJ1 P48048 potassium inwardly rectifying channel subfamily J member 1 Ion channel 4.6E-05 0.619 0.577
PPP1CB P62140 protein phosphatase 1 catalytic subunit beta Enzyme 1.00 0.601 0.577