Disease: Severe intellectual disability
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ZNF81 P51508 zinc finger protein 81 0.55 0.705 0.385
ZNF711 Q9Y462 zinc finger protein 711 0.98 0.691 0.423
ZNF41 P51814 zinc finger protein 41 3.5E-02 0.711 0.385
ZDHHC15 Q96MV8 zinc finger DHHC-type palmitoyltransferase 15 0.84 0.792 0.269
XIST X inactive specific transcript 0.522 0.808
USP9X Q93008 ubiquitin specific peptidase 9 X-linked 1.00 0.502 0.846
UPF3B Q9BZI7 UPF3B regulator of nonsense mediated mRNA decay 0.98 0.619 0.615
UBE2A P49459 ubiquitin conjugating enzyme E2 A 0.81 0.623 0.692
TSPAN7 P41732 tetraspanin 7 0.75 0.604 0.731
THOC2 Q8NI27 THO complex 2 Transcription factor 1.00 0.650 0.538
SYP P08247 synaptophysin Transporter 0.92 0.481 0.808
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 0.808
SMARCA2 P51531 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 Epigenetic regulator 1.00 0.527 0.769
SLC9A6 Q92581 solute carrier family 9 member A6 Transporter 1.00 0.516 0.846
SLC16A2 P36021 solute carrier family 16 member 2 Transporter 0.99 0.592 0.577
SHROOM4 Q9ULL8 shroom family member 4 1.00 0.700 0.500
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
RASGRF1 Q13972 Ras protein specific guanine nucleotide releasing factor 1 Enzyme modulator 1.00 0.537 0.769
RAB39B Q96DA2 RAB39B, member RAS oncogene family 0.83 0.619 0.615
PTCHD1 Q96NR3 patched domain containing 1 Receptor 0.98 0.678 0.385
PQBP1 O60828 polyglutamine binding protein 1 Transcription factor 0.79 0.570 0.654
PHF6 Q8IWS0 PHD finger protein 6 Nucleic acid binding 1.00 0.581 0.692
PCDH19 Q8TAB3 protocadherin 19 1.00 0.599 0.462
PAK3 O75914 p21 (RAC1) activated kinase 3 Kinase 0.99 0.569 0.731
OPHN1 O60890 oligophrenin 1 Enzyme modulator 1.00 0.633 0.538