Disease: Absent speech
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
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
DNM1 Q05193 dynamin 1 Enzyme modulator 1.00 0.595 0.692
FARS2 O95363 phenylalanyl-tRNA synthetase 2, mitochondrial Enzyme 9.3E-09 0.615 0.731
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
GABRB2 P47870 gamma-aminobutyric acid type A receptor subunit beta2 Ion channel 0.85 0.619 0.500
GRIN1 Q05586 glutamate ionotropic receptor NMDA type subunit 1 Ion channel 0.98 0.561 0.692
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
HNRNPU Q00839 heterogeneous nuclear ribonucleoprotein U 1.00 0.575 0.654
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
KCNAB2 Q13303 potassium voltage-gated channel subfamily A regulatory beta subunit 2 Ion channel 0.80 0.593 0.692
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
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
NACC1 Q96RE7 nucleus accumbens associated 1 1.00 0.610 0.577
PARS2 Q7L3T8 prolyl-tRNA synthetase 2, mitochondrial Enzyme 4.1E-03 0.644 0.423
PIGW Q7Z7B1 phosphatidylinositol glycan anchor biosynthesis class W Enzyme 1.2E-05 0.633 0.654
RARS2 Q5T160 arginyl-tRNA synthetase 2, mitochondrial 7.7E-14 0.663 0.462
SCN2A Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 1.00 0.518 0.731
SIK1 A0A0B4J2F2 P57059 salt inducible kinase 1 Kinase 0.94 0.544 0.731
SKI P12755 SKI proto-oncogene 1.00 0.503 0.808
SLC1A4 P43007 solute carrier family 1 member 4 Transporter 6.6E-02 0.700 0.385
SPATA5 Q8NB90 spermatogenesis associated 5 9.1E-20 0.670 0.654
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692