Disease: Cortical visual impairment
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
EZR P15311 ezrin Cellular structure 0.18 0.476 0.808
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
CACNA1C Q13936 calcium voltage-gated channel subunit alpha1 C Ion channel 1.00 0.510 0.846
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
SLC35A2 P78381 solute carrier family 35 member A2 Transporter 0.72 0.525 0.808
KDM5B Q9UGL1 lysine demethylase 5B Epigenetic regulator 7.9E-15 0.532 0.731
CRBN Q96SW2 cereblon Enzyme 2.9E-04 0.551 0.654
SARS1 P49591 seryl-tRNA synthetase 1 Enzyme 1.00 0.558 0.769
NSUN2 Q08J23 NOP2/Sun RNA methyltransferase 2 Enzyme 2.6E-04 0.559 0.846
GRIK2 Q13002 glutamate ionotropic receptor kainate type subunit 2 Ion channel 1.00 0.561 0.769
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
AIMP1 Q12904 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 Enzyme 3.0E-07 0.566 0.769
TUSC3 Q13454 tumor suppressor candidate 3 Transporter 3.5E-06 0.576 0.615
B3GALNT2 Q8NCR0 beta-1,3-N-acetylgalactosaminyltransferase 2 Enzyme 2.8E-07 0.578 0.577
HNMT P50135 histamine N-methyltransferase 2.0E-02 0.579 0.808
MED25 Q71SY5 mediator complex subunit 25 Transcription factor 8.4E-07 0.582 0.654
TRAPPC9 Q96Q05 trafficking protein particle complex 9 2.3E-14 0.603 0.577
ST3GAL3 Q11203 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 2.6E-03 0.606 0.654
MAN1B1 Q9UKM7 mannosidase alpha class 1B member 1 Chaperone 1.2E-08 0.606 0.577
NDST1 P52848 N-deacetylase and N-sulfotransferase 1 1.00 0.608 0.692
PIGQ Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 1.4E-06 0.610 0.577
FMN2 Q9NZ56 formin 2 1.00 0.610 0.538
MED23 Q9ULK4 mediator complex subunit 23 3.1E-08 0.612 0.654
TNIK Q9UKE5 TRAF2 and NCK interacting kinase Kinase 1.00 0.612 0.615