Disease: Severe intellectual disability
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABCC8 Q09428 ATP binding cassette subfamily C member 8 Transporter 8.0E-24 0.474 0.846
ACSL4 O60488 acyl-CoA synthetase long chain family member 4 Enzyme 0.98 0.561 0.769
AGTR2 P50052 angiotensin II receptor type 2 G-protein coupled receptor 8.2E-03 0.496 0.808
ALG13 Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 1.00 0.631 0.577
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
CLCN4 P51793 chloride voltage-gated channel 4 Ion channel 1.00 0.587 0.654
CNKSR2 Q8WXI2 connector enhancer of kinase suppressor of Ras 2 1.00 0.628 0.538
CPLX1 O14810 complexin 1 0.82 0.576 0.654
CTBP1 Q13363 C-terminal binding protein 1 Transcription factor 0.98 0.559 0.692
CXorf56 Q9H5V9 chromosome X open reading frame 56 0.95 0.705 0.385
CYB5A P00167 cytochrome b5 type A Enzyme 1.6E-03 0.601 0.654
CYB5R3 P00387 cytochrome b5 reductase 3 1.9E-04 0.638 0.654
DLG3 Q92796 discs large MAGUK scaffold protein 3 1.00 0.544 0.615
DMD P11532 dystrophin 1.00 0.423 0.923
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
EIF2S3 P41091 eukaryotic translation initiation factor 2 subunit gamma Enzyme 0.96 0.604 0.731
FGFRL1 Q8N441 fibroblast growth factor receptor like 1 Enzyme 1.2E-02 0.588 0.615
FRMPD4 Q14CM0 FERM and PDZ domain containing 4 1.00 0.674 0.423
FTSJ1 Q9UET6 FtsJ RNA 2'-O-methyltransferase 1 0.99 0.659 0.577
GCK P35557 glucokinase Kinase 0.63 0.523 0.808
GDI1 P31150 GDP dissociation inhibitor 1 Enzyme 0.99 0.572 0.654
GRIN2A Q12879 glutamate ionotropic receptor NMDA type subunit 2A Ion channel 1.00 0.522 0.808
HCFC1 P51610 host cell factor C1 1.00 0.601 0.692
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769