Disease: Poor head control
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
NTRK2 Q16620 neurotrophic receptor tyrosine kinase 2 Kinase 1.00 0.479 0.808
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
SCN2A Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 1.00 0.518 0.731
GRIN2A Q12879 glutamate ionotropic receptor NMDA type subunit 2A Ion channel 1.00 0.522 0.808
ND1 P03886 NADH dehydrogenase, subunit 1 (complex I) Enzyme 0.522 0.769
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
GNAO1 P09471 G protein subunit alpha o1 Enzyme modulator 0.99 0.523 0.808
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
SIK1 A0A0B4J2F2 P57059 salt inducible kinase 1 Kinase 0.94 0.544 0.731
PNKP Q96T60 polynucleotide kinase 3'-phosphatase 3.7E-14 0.553 0.692
KCNA1 Q09470 potassium voltage-gated channel subfamily A member 1 Ion channel 7.6E-02 0.573 0.577
UBA5 Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 2.5E-04 0.582 0.731
TRIM8 Q9BZR9 tripartite motif containing 8 0.99 0.588 0.731
DNM1 Q05193 dynamin 1 Enzyme modulator 1.00 0.595 0.692
SLC25A22 Q9H936 solute carrier family 25 member 22 Transporter 6.6E-03 0.595 0.577
ND2 P03891 MTND2 0.601 0.615
NGLY1 Q96IV0 N-glycanase 1 Enzyme 1.5E-13 0.601 0.654
ND3 P03897 NADH dehydrogenase, subunit 3 (complex I) 0.604 0.654
PIGQ Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 1.4E-06 0.610 0.577
FARS2 O95363 phenylalanyl-tRNA synthetase 2, mitochondrial Enzyme 9.3E-09 0.615 0.731
SCN3A Q9NY46 sodium voltage-gated channel alpha subunit 3 Ion channel 1.00 0.617 0.538
FGF12 P61328 fibroblast growth factor 12 Signaling 0.62 0.619 0.615
GABRB2 P47870 gamma-aminobutyric acid type A receptor subunit beta2 Ion channel 0.85 0.619 0.500
NEUROD2 Q15784 neuronal differentiation 2 Enzyme 0.94 0.619 0.538