Disease: Profound intellectual disabilities
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
DMD P11532 dystrophin 1.00 0.423 0.923
HSPD1 P10809 heat shock protein family D (Hsp60) member 1 0.99 0.432 0.808
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
SYP P08247 synaptophysin Transporter 0.92 0.481 0.808
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
AGTR2 P50052 angiotensin II receptor type 2 G-protein coupled receptor 8.2E-03 0.496 0.808
ADAR P55265 adenosine deaminase RNA specific Enzyme 2.6E-02 0.501 0.808
USP9X Q93008 ubiquitin specific peptidase 9 X-linked 1.00 0.502 0.846
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
LARGE1 O95461 LARGE xylosyl- and glucuronyltransferase 1 Enzyme 0.99 0.526 0.654
DLG3 Q92796 discs large MAGUK scaffold protein 3 1.00 0.544 0.615
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
ACSL4 O60488 acyl-CoA synthetase long chain family member 4 Enzyme 0.98 0.561 0.769
PAK3 O75914 p21 (RAC1) activated kinase 3 Kinase 0.99 0.569 0.731
GDI1 P31150 GDP dissociation inhibitor 1 Enzyme 0.99 0.572 0.654
IQSEC2 Q5JU85 IQ motif and Sec7 domain ArfGEF 2 1.00 0.573 0.577
PRPS1 P60891 phosphoribosyl pyrophosphate synthetase 1 Kinase 0.92 0.584 0.731
CLCN4 P51793 chloride voltage-gated channel 4 Ion channel 1.00 0.587 0.654
HCFC1 P51610 host cell factor C1 1.00 0.601 0.692
TSPAN7 P41732 tetraspanin 7 0.75 0.604 0.731
IL1RAPL1 Q9NZN1 interleukin 1 receptor accessory protein like 1 Receptor 1.00 0.617 0.692
UPF3B Q9BZI7 UPF3B regulator of nonsense mediated mRNA decay 0.98 0.619 0.615
RAB39B Q96DA2 RAB39B, member RAS oncogene family 0.83 0.619 0.615