Disease: Macrocephaly
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
WNT5A P41221 Wnt family member 5A Signaling 0.99 0.443 0.808
UPF3B Q9BZI7 UPF3B regulator of nonsense mediated mRNA decay 0.98 0.619 0.615
USP9X Q93008 ubiquitin specific peptidase 9 X-linked 1.00 0.502 0.846
TRIP11 Q15643 thyroid hormone receptor interactor 11 1.7E-12 0.595 0.654
SUMF1 Q8NBK3 sulfatase modifying factor 1 2.3E-08 0.641 0.538
SHOC2 Q9UQ13 SHOC2 leucine rich repeat scaffold protein 1.00 0.593 0.769
SETD2 Q9BYW2 SET domain containing 2, histone lysine methyltransferase Epigenetic regulator 1.00 0.424 0.846
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
PPP1CB P62140 protein phosphatase 1 catalytic subunit beta Enzyme 1.00 0.601 0.577
KCNJ1 P48048 potassium inwardly rectifying channel subfamily J member 1 Ion channel 4.6E-05 0.619 0.577
POC1A Q8NBT0 POC1 centriolar protein A 3.3E-06 0.650 0.500
PTDSS1 P48651 phosphatidylserine synthase 1 Enzyme 0.15 0.610 0.615
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731
PEX5 P50542 peroxisomal biogenesis factor 5 Transporter 5.6E-05 0.561 0.731
PTCH1 Q13635 patched 1 1.00 0.398 0.885
OPHN1 O60890 oligophrenin 1 Enzyme modulator 1.00 0.633 0.538
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
NFIX Q14938 nuclear factor I X Nucleic acid binding 1.00 0.547 0.769
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
KMT2E Q8IZD2 lysine methyltransferase 2E 1.00 0.682 0.423
LRP4 O75096 LDL receptor related protein 4 1.4E-06 0.568 0.692