Disease: Macrocephaly
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACSL4 O60488 acyl-CoA synthetase long chain family member 4 Enzyme 0.98 0.561 0.769
AFF2 P51816 AF4/FMR2 family member 2 Transcription factor 1.00 0.636 0.538
AGTR2 P50052 angiotensin II receptor type 2 G-protein coupled receptor 8.2E-03 0.496 0.808
AP1S2 P56377 adaptor related protein complex 1 subunit sigma 2 Transporter 0.87 0.631 0.615
ARHGEF6 Q15052 Rac/Cdc42 guanine nucleotide exchange factor 6 1.00 0.678 0.462
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
BRWD3 Q6RI45 bromodomain and WD repeat domain containing 3 1.00 0.716 0.538
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
CLCN4 P51793 chloride voltage-gated channel 4 Ion channel 1.00 0.587 0.654
CUL4B Q13620 cullin 4B Enzyme 1.00 0.556 0.769
DLG3 Q92796 discs large MAGUK scaffold protein 3 1.00 0.544 0.615
DMD P11532 dystrophin 1.00 0.423 0.923
FMR1 Q06787 FMRP translational regulator 1 Nucleic acid binding 0.65 0.473 0.769
FTSJ1 Q9UET6 FtsJ RNA 2'-O-methyltransferase 1 0.99 0.659 0.577
GDI1 P31150 GDP dissociation inhibitor 1 Enzyme 0.99 0.572 0.654
GFAP P14136 glial fibrillary acidic protein 1.5E-06 0.421 0.885
GH1 P01241 growth hormone 1 Signaling 3.0E-02 0.373 0.923
GRIA3 P42263 glutamate ionotropic receptor AMPA type subunit 3 Ion channel 1.00 0.566 0.692
HCFC1 P51610 host cell factor C1 1.00 0.601 0.692
HTC2 hypertrichosis 2 (generalized, congenital) 0.392 0.808
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
IL1RAPL1 Q9NZN1 interleukin 1 receptor accessory protein like 1 Receptor 1.00 0.617 0.692
IQSEC2 Q5JU85 IQ motif and Sec7 domain ArfGEF 2 1.00 0.573 0.577
KDM5C P41229 lysine demethylase 5C 1.00 0.581 0.538