Disease: Myoclonus
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
ADAR P55265 adenosine deaminase RNA specific Enzyme 2.6E-02 0.501 0.808
ADCY5 O95622 adenylate cyclase 5 1.00 0.617 0.577
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
CACNA1E Q15878 calcium voltage-gated channel subunit alpha1 E Ion channel 1.00 0.650 0.577
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
CYFIP2 Q96F07 cytoplasmic FMR1 interacting protein 2 Enzyme modulator 1.00 0.633 0.731
DCX O43602 doublecortin 0.30 0.511 0.769
DDC P20711 dopa decarboxylase 3.8E-08 0.535 0.769
DENND5A Q6IQ26 DENN domain containing 5A 5.8E-02 0.821 0.115
DHDDS Q86SQ9 dehydrodolichyl diphosphate synthase subunit Enzyme 0.25 0.468 0.885
FARS2 O95363 phenylalanyl-tRNA synthetase 2, mitochondrial Enzyme 9.3E-09 0.615 0.731
FGF12 P61328 fibroblast growth factor 12 Signaling 0.62 0.619 0.615
GLYCTK Q8IVS8 glycerate kinase Kinase 9.7E-11 0.751 0.308
GPHN Q9NQX3 gephyrin 1.00 0.608 0.538
GRIA3 P42263 glutamate ionotropic receptor AMPA type subunit 3 Ion channel 1.00 0.566 0.692
GRIN2D O15399 glutamate ionotropic receptor NMDA type subunit 2D Ion channel 1.00 0.650 0.538
HTT P42858 huntingtin 1.00 0.548 0.654
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
NECAP1 Q8NC96 NECAP endocytosis associated 1 0.13 0.691 0.346
NEUROD2 Q15784 neuronal differentiation 2 Enzyme 0.94 0.619 0.538
PARS2 Q7L3T8 prolyl-tRNA synthetase 2, mitochondrial Enzyme 4.1E-03 0.644 0.423
PIGA P37287 phosphatidylinositol glycan anchor biosynthesis class A 0.96 0.575 0.654