Disease: Profound intellectual disabilities
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
DPM3 Q9P2X0 dolichyl-phosphate mannosyltransferase subunit 3, regulatory 0.23 0.839 0.308
ZNF41 P51814 zinc finger protein 41 3.5E-02 0.711 0.385
CXorf56 Q9H5V9 chromosome X open reading frame 56 0.95 0.705 0.385
PTCHD1 Q96NR3 patched domain containing 1 Receptor 0.98 0.678 0.385
ZNF81 P51508 zinc finger protein 81 0.55 0.705 0.385
ZNF711 Q9Y462 zinc finger protein 711 0.98 0.691 0.423
FRMPD4 Q14CM0 FERM and PDZ domain containing 4 1.00 0.674 0.423
ARHGEF6 Q15052 Rac/Cdc42 guanine nucleotide exchange factor 6 1.00 0.678 0.462
USP27X A6NNY8 ubiquitin specific peptidase 27 X-linked 0.92 0.705 0.462
MID2 Q9UJV3 midline 2 0.18 0.695 0.500
CNKSR2 Q8WXI2 connector enhancer of kinase suppressor of Ras 2 1.00 0.628 0.538
IQSEC2 Q5JU85 IQ motif and Sec7 domain ArfGEF 2 1.00 0.573 0.577
FTSJ1 Q9UET6 FtsJ RNA 2'-O-methyltransferase 1 0.99 0.659 0.577
ALG13 Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 1.00 0.631 0.577
SLC9A7 Q96T83 solute carrier family 9 member A7 Transporter 0.99 0.695 0.577
HGSNAT Q68CP4 heparan-alpha-glucosaminide N-acetyltransferase 6.3E-08 0.628 0.577
DLG3 Q92796 discs large MAGUK scaffold protein 3 1.00 0.544 0.615
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
CLCN4 P51793 chloride voltage-gated channel 4 Ion channel 1.00 0.587 0.654
GDI1 P31150 GDP dissociation inhibitor 1 Enzyme 0.99 0.572 0.654
LARGE1 O95461 LARGE xylosyl- and glucuronyltransferase 1 Enzyme 0.99 0.526 0.654
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
HCFC1 P51610 host cell factor C1 1.00 0.601 0.692