Disease: Severe intellectual disability
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
IL1B P01584 interleukin 1 beta 0.13 0.276 0.962
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
L1CAM P32004 L1 cell adhesion molecule 1.00 0.475 0.769
MAOA P21397 monoamine oxidase A 1.00 0.465 0.769
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
NEXMIF Q5QGS0 neurite extension and migration factor 1.00 0.659 0.385
OPHN1 O60890 oligophrenin 1 Enzyme modulator 1.00 0.633 0.538
PAK3 O75914 p21 (RAC1) activated kinase 3 Kinase 0.99 0.569 0.731
PCDH19 Q8TAB3 protocadherin 19 1.00 0.599 0.462
PHF6 Q8IWS0 PHD finger protein 6 Nucleic acid binding 1.00 0.581 0.692
PQBP1 O60828 polyglutamine binding protein 1 Transcription factor 0.79 0.570 0.654
PTCHD1 Q96NR3 patched domain containing 1 Receptor 0.98 0.678 0.385
RAB39B Q96DA2 RAB39B, member RAS oncogene family 0.83 0.619 0.615
RASGRF1 Q13972 Ras protein specific guanine nucleotide releasing factor 1 Enzyme modulator 1.00 0.537 0.769
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
SHROOM4 Q9ULL8 shroom family member 4 1.00 0.700 0.500
SLC16A2 P36021 solute carrier family 16 member 2 Transporter 0.99 0.592 0.577
SLC9A6 Q92581 solute carrier family 9 member A6 Transporter 1.00 0.516 0.846
SMARCA2 P51531 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 Epigenetic regulator 1.00 0.527 0.769
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 0.808
SYP P08247 synaptophysin Transporter 0.92 0.481 0.808