Disease: Absent speech
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
DCPS Q96C86 decapping enzyme, scavenger Enzyme 2.5E-07 0.612 0.538
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
EARS2 Q5JPH6 glutamyl-tRNA synthetase 2, mitochondrial Enzyme 1.1E-08 0.666 0.538
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
FRMPD4 Q14CM0 FERM and PDZ domain containing 4 1.00 0.674 0.423
FRRS1L Q9P0K9 ferric chelate reductase 1 like 1.5E-03 0.666 0.231
GMPPB Q9Y5P6 GDP-mannose pyrophosphorylase B 8.4E-07 0.578 0.538
GNAO1 P09471 G protein subunit alpha o1 Enzyme modulator 0.99 0.523 0.808
GPT2 Q8TD30 glutamic--pyruvic transaminase 2 Enzyme 3.4E-04 0.650 0.577
GRIA4 P48058 glutamate ionotropic receptor AMPA type subunit 4 Ion channel 1.8E-02 0.631 0.615
GRIN1 Q05586 glutamate ionotropic receptor NMDA type subunit 1 Ion channel 0.98 0.561 0.692
HNRNPU Q00839 heterogeneous nuclear ribonucleoprotein U 1.00 0.575 0.654
IFIH1 Q9BYX4 interferon induced with helicase C domain 1 7.0E-44 0.471 0.808
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
KIF5C O60282 kinesin family member 5C Cellular structure 1.00 0.686 0.346
LNPK Q9C0E8 lunapark, ER junction formation factor 6.2E-04 0.716 0.346
MACF1 Q9UPN3 microtubule actin crosslinking factor 1 Cellular structure 1.00 0.659 0.538
MBOAT7 Q96N66 membrane bound O-acyltransferase domain containing 7 Enzyme 0.11 0.612 0.500
MDH2 P40926 malate dehydrogenase 2 Enzyme 6.7E-03 0.595 0.731
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MFSD2A Q8NA29 major facilitator superfamily domain containing 2A Transporter 1.1E-02 0.626 0.538
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
NEXMIF Q5QGS0 neurite extension and migration factor 1.00 0.659 0.385
NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577