Disease: Absent speech
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
GRIN2D O15399 glutamate ionotropic receptor NMDA type subunit 2D Ion channel 1.00 0.650 0.538
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
KCNA2 P16389 potassium voltage-gated channel subfamily A member 2 Ion channel 0.91 0.612 0.577
GABRG2 P18507 gamma-aminobutyric acid type A receptor subunit gamma2 Ion channel 0.74 0.548 0.654
ATP6V1A P38606 ATPase H+ transporting V1 subunit A Transporter 0.87 0.579 0.615
HTT P42858 huntingtin 1.00 0.548 0.654
SLC1A2 P43004 solute carrier family 1 member 2 Transporter 0.71 0.511 0.731
GABRB2 P47870 gamma-aminobutyric acid type A receptor subunit beta2 Ion channel 0.85 0.619 0.500
CLCN4 P51793 chloride voltage-gated channel 4 Ion channel 1.00 0.587 0.654
SMS P52788 spermine synthase 0.97 0.491 0.846
ALDH18A1 P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 8.1E-04 0.551 0.769
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
CACNA1B Q00975 calcium voltage-gated channel subunit alpha1 B Ion channel 1.00 0.650 0.577
DNM1 Q05193 dynamin 1 Enzyme modulator 1.00 0.595 0.692
EEF1A2 Q05639 eukaryotic translation elongation factor 1 alpha 2 Enzyme 1.00 0.554 0.808
PPP3CA Q08209 protein phosphatase 3 catalytic subunit alpha 1.00 0.568 0.769
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
AP3B2 Q13367 adaptor related protein complex 3 subunit beta 2 Transporter 0.77 0.691 0.346
DAG1 Q14118 dystroglycan 1 Receptor 0.98 0.498 0.808
KCNB1 Q14721 potassium voltage-gated channel subfamily B member 1 Ion channel 1.00 0.650 0.462
RAB11B Q15907 RAB11B, member RAS oncogene family 0.44 0.691 0.538
NTRK2 Q16620 neurotrophic receptor tyrosine kinase 2 Kinase 1.00 0.479 0.808
DARS2 Q6PI48 aspartyl-tRNA synthetase 2, mitochondrial Enzyme 9.8E-13 0.638 0.577
PACS1 Q6VY07 phosphofurin acidic cluster sorting protein 1 1.00 0.603 0.615