Disease: Myoclonus
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
GRIN2D O15399 glutamate ionotropic receptor NMDA type subunit 2D Ion channel 1.00 0.650 0.538
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
DCX O43602 doublecortin 0.30 0.511 0.769
PLA2G6 O60733 phospholipase A2 group VI Enzyme modulator 2.5E-10 0.476 0.846
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
FARS2 O95363 phenylalanyl-tRNA synthetase 2, mitochondrial Enzyme 9.3E-09 0.615 0.731
ADCY5 O95622 adenylate cyclase 5 1.00 0.617 0.577
TH P07101 tyrosine hydroxylase 1.7E-06 0.462 0.885
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
DDC P20711 dopa decarboxylase 3.8E-08 0.535 0.769
PIGA P37287 phosphatidylinositol glycan anchor biosynthesis class A 0.96 0.575 0.654
GRIA3 P42263 glutamate ionotropic receptor AMPA type subunit 3 Ion channel 1.00 0.566 0.692
HTT P42858 huntingtin 1.00 0.548 0.654
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
ADAR P55265 adenosine deaminase RNA specific Enzyme 2.6E-02 0.501 0.808
PIGP P57054 phosphatidylinositol glycan anchor biosynthesis class P 1.9E-03 0.633 0.462
FGF12 P61328 fibroblast growth factor 12 Signaling 0.62 0.619 0.615
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
PTS Q03393 6-pyruvoyltetrahydropterin synthase 6.5E-06 0.636 0.654
NEUROD2 Q15784 neuronal differentiation 2 Enzyme 0.94 0.619 0.538
CACNA1E Q15878 calcium voltage-gated channel subunit alpha1 E Ion channel 1.00 0.650 0.577
PIGY Q3MUY2 phosphatidylinositol glycan anchor biosynthesis class Y 9.7E-02 0.628 0.577
VPS13D Q5THJ4 vacuolar protein sorting 13 homolog D 1.1E-06 0.769 0.346
DENND5A Q6IQ26 DENN domain containing 5A 5.8E-02 0.821 0.115