Disease: Cortical visual impairment
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
TNIK Q9UKE5 TRAF2 and NCK interacting kinase Kinase 1.00 0.612 0.615
ALG13 Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 1.00 0.631 0.577
NDST1 P52848 N-deacetylase and N-sulfotransferase 1 1.00 0.608 0.692
KIF5A Q12840 kinesin family member 5A Cellular structure 1.00 0.593 0.731
SARS1 P49591 seryl-tRNA synthetase 1 Enzyme 1.00 0.558 0.769
CLCN4 P51793 chloride voltage-gated channel 4 Ion channel 1.00 0.587 0.654
GRIK2 Q13002 glutamate ionotropic receptor kainate type subunit 2 Ion channel 1.00 0.561 0.769
FMN2 Q9NZ56 formin 2 1.00 0.610 0.538
ZC3H14 Q6PJT7 zinc finger CCCH-type containing 14 0.88 0.691 0.308
CRADD P78560 CASP2 and RIPK1 domain containing adaptor with death domain 0.88 0.619 0.500
CLIP1 P30622 CAP-Gly domain containing linker protein 1 Cellular structure 0.68 0.617 0.654
FBXO31 Q5XUX0 F-box protein 31 0.44 0.653 0.423
EZR P15311 ezrin Cellular structure 0.18 0.476 0.808
MBOAT7 Q96N66 membrane bound O-acyltransferase domain containing 7 Enzyme 0.11 0.612 0.500
TECR Q9NZ01 trans-2,3-enoyl-CoA reductase Enzyme 0.11 0.674 0.423
WARS2 Q9UGM6 tryptophanyl tRNA synthetase 2, mitochondrial 5.1E-02 0.617 0.577
EDC3 Q96F86 enhancer of mRNA decapping 3 2.6E-02 0.682 0.308
HNMT P50135 histamine N-methyltransferase 2.0E-02 0.579 0.808
CC2D1A Q6P1N0 coiled-coil and C2 domain containing 1A 8.5E-03 0.628 0.462
PIGC Q92535 phosphatidylinositol glycan anchor biosynthesis class C Enzyme 5.5E-03 0.691 0.346
ST3GAL3 Q11203 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 2.6E-03 0.606 0.654
FRRS1L Q9P0K9 ferric chelate reductase 1 like 1.5E-03 0.666 0.231
CRBN Q96SW2 cereblon Enzyme 2.9E-04 0.551 0.654
NSUN2 Q08J23 NOP2/Sun RNA methyltransferase 2 Enzyme 2.6E-04 0.559 0.846