Disease: Absent speech
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
CACNA1B Q00975 calcium voltage-gated channel subunit alpha1 B Ion channel 1.00 0.650 0.577
CAMK2A Q9UQM7 calcium/calmodulin dependent protein kinase II alpha Kinase 1.00 0.612 0.538
CAMK2B Q13554 calcium/calmodulin dependent protein kinase II beta Kinase 0.74 0.626 0.538
CARS2 Q9HA77 cysteinyl-tRNA synthetase 2, mitochondrial Enzyme 9.6E-08 0.700 0.423
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
CCND2 P30279 cyclin D2 Enzyme modulator 0.99 0.477 0.808
CNTNAP2 Q9UHC6 contactin associated protein 2 2.9E-09 0.530 0.846
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
CUL4B Q13620 cullin 4B Enzyme 1.00 0.556 0.769
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
GABBR2 O75899 gamma-aminobutyric acid type B receptor subunit 2 G-protein coupled receptor 1.00 0.650 0.538
GABRG2 P18507 gamma-aminobutyric acid type A receptor subunit gamma2 Ion channel 0.74 0.548 0.654
GATAD2B Q8WXI9 GATA zinc finger domain containing 2B Nucleic acid binding 1.00 0.593 0.654
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
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
HIKESHI Q53FT3 heat shock protein nuclear import factor hikeshi 0.52 0.751 0.385
HTT P42858 huntingtin 1.00 0.548 0.654
IREB2 P48200 iron responsive element binding protein 2 Enzyme 1.00 0.619 0.577
KCNA2 P16389 potassium voltage-gated channel subfamily A member 2 Ion channel 0.91 0.612 0.577