Disease: Muscular hypotonia of the trunk
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AIMP1 Q12904 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 Enzyme 3.0E-07 0.566 0.769
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ATAD3A Q9NVI7 ATPase family AAA domain containing 3A Enzyme 4.1E-09 0.628 0.692
CACNA1C Q13936 calcium voltage-gated channel subunit alpha1 C Ion channel 1.00 0.510 0.846
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
CYFIP2 Q96F07 cytoplasmic FMR1 interacting protein 2 Enzyme modulator 1.00 0.633 0.731
DDC P20711 dopa decarboxylase 3.8E-08 0.535 0.769
DHX30 Q7L2E3 DExH-box helicase 30 Enzyme 1.00 0.722 0.500
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
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
KCNJ11 Q14654 potassium inwardly rectifying channel subfamily J member 11 Ion channel 1.1E-02 0.529 0.615
MBOAT7 Q96N66 membrane bound O-acyltransferase domain containing 7 Enzyme 0.11 0.612 0.500
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
NALCN Q8IZF0 sodium leak channel, non-selective Ion channel 8.5E-14 0.587 0.615
NEUROD2 Q15784 neuronal differentiation 2 Enzyme 0.94 0.619 0.538
NSUN2 Q08J23 NOP2/Sun RNA methyltransferase 2 Enzyme 2.6E-04 0.559 0.846
PIGP P57054 phosphatidylinositol glycan anchor biosynthesis class P 1.9E-03 0.633 0.462
PIGQ Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 1.4E-06 0.610 0.577
RNASEH2B Q5TBB1 ribonuclease H2 subunit B 3.3E-09 0.595 0.615
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731
SLC18A2 Q05940 solute carrier family 18 member A2 Transporter 7.6E-02 0.554 0.769
SLC35A2 P78381 solute carrier family 35 member A2 Transporter 0.72 0.525 0.808