Disease: Delayed speech and language development
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
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
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
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
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
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
ERCC2 P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 7.1E-20 0.420 0.846
FAM111A Q96PZ2 family with sequence similarity 111 member A 2.2E-03 0.663 0.462
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
GDI1 P31150 GDP dissociation inhibitor 1 Enzyme 0.99 0.572 0.654
GMNN O75496 geminin DNA replication inhibitor 0.11 0.554 0.808
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
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