Disease: Profound intellectual disabilities
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
ADAR P55265 adenosine deaminase RNA specific Enzyme 2.6E-02 0.501 0.808
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
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
DPM3 Q9P2X0 dolichyl-phosphate mannosyltransferase subunit 3, regulatory 0.23 0.839 0.308
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
HCFC1 P51610 host cell factor C1 1.00 0.601 0.692
HGSNAT Q68CP4 heparan-alpha-glucosaminide N-acetyltransferase 6.3E-08 0.628 0.577
HSPD1 P10809 heat shock protein family D (Hsp60) member 1 0.99 0.432 0.808
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
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
LARGE1 O95461 LARGE xylosyl- and glucuronyltransferase 1 Enzyme 0.99 0.526 0.654
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
MID2 Q9UJV3 midline 2 0.18 0.695 0.500