Disease: Profound intellectual disabilities
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
USP9X Q93008 ubiquitin specific peptidase 9 X-linked 1.00 0.502 0.846
USP27X A6NNY8 ubiquitin specific peptidase 27 X-linked 0.92 0.705 0.462
UPF3B Q9BZI7 UPF3B regulator of nonsense mediated mRNA decay 0.98 0.619 0.615
TSPAN7 P41732 tetraspanin 7 0.75 0.604 0.731
SYP P08247 synaptophysin Transporter 0.92 0.481 0.808
SLC9A7 Q96T83 solute carrier family 9 member A7 Transporter 0.99 0.695 0.577
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
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
PRPS1 P60891 phosphoribosyl pyrophosphate synthetase 1 Kinase 0.92 0.584 0.731
PAK3 O75914 p21 (RAC1) activated kinase 3 Kinase 0.99 0.569 0.731
MID2 Q9UJV3 midline 2 0.18 0.695 0.500
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
LARGE1 O95461 LARGE xylosyl- and glucuronyltransferase 1 Enzyme 0.99 0.526 0.654
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
IQSEC2 Q5JU85 IQ motif and Sec7 domain ArfGEF 2 1.00 0.573 0.577
IL1RAPL1 Q9NZN1 interleukin 1 receptor accessory protein like 1 Receptor 1.00 0.617 0.692
HSPD1 P10809 heat shock protein family D (Hsp60) member 1 0.99 0.432 0.808
HGSNAT Q68CP4 heparan-alpha-glucosaminide N-acetyltransferase 6.3E-08 0.628 0.577
HCFC1 P51610 host cell factor C1 1.00 0.601 0.692