Disease: Profound intellectual disabilities
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ERCC6 P0DP91 Q03468 ERCC excision repair 6, chromatin remodeling factor 5.2E-22 0.507 0.808
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
NGLY1 Q96IV0 N-glycanase 1 Enzyme 1.5E-13 0.601 0.654
BUB1B O60566 BUB1 mitotic checkpoint serine/threonine kinase B Kinase 7.0E-10 0.502 0.808
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846
AGTR2 P50052 angiotensin II receptor type 2 G-protein coupled receptor 8.2E-03 0.496 0.808
ZNF41 P51814 zinc finger protein 41 3.5E-02 0.711 0.385
MID2 Q9UJV3 midline 2 0.18 0.695 0.500
ZNF81 P51508 zinc finger protein 81 0.55 0.705 0.385
TSPAN7 P41732 tetraspanin 7 0.75 0.604 0.731
RAB39B Q96DA2 RAB39B, member RAS oncogene family 0.83 0.619 0.615
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
SYP P08247 synaptophysin Transporter 0.92 0.481 0.808
USP27X A6NNY8 ubiquitin specific peptidase 27 X-linked 0.92 0.705 0.462
CXorf56 Q9H5V9 chromosome X open reading frame 56 0.95 0.705 0.385
ZNF711 Q9Y462 zinc finger protein 711 0.98 0.691 0.423
ACSL4 O60488 acyl-CoA synthetase long chain family member 4 Enzyme 0.98 0.561 0.769
PTCHD1 Q96NR3 patched domain containing 1 Receptor 0.98 0.678 0.385
UPF3B Q9BZI7 UPF3B regulator of nonsense mediated mRNA decay 0.98 0.619 0.615
PAK3 O75914 p21 (RAC1) activated kinase 3 Kinase 0.99 0.569 0.731
FTSJ1 Q9UET6 FtsJ RNA 2'-O-methyltransferase 1 0.99 0.659 0.577
SLC9A7 Q96T83 solute carrier family 9 member A7 Transporter 0.99 0.695 0.577
GDI1 P31150 GDP dissociation inhibitor 1 Enzyme 0.99 0.572 0.654