Disease: Developmental regression
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
GUF1 Q8N442 GUF1 homolog, GTPase Enzyme 5.3E-18 0.805 0.154
CNPY3 Q9BT09 canopy FGF signaling regulator 3 0.40 0.805 0.269
KCNT1 Q5JUK3 potassium sodium-activated channel subfamily T member 1 Ion channel 2.8E-05 0.610 0.308
KCNT2 Q6UVM3 potassium sodium-activated channel subfamily T member 2 4.2E-02 0.711 0.308
TRNV tRNA 0.670 0.423
PARS2 Q7L3T8 prolyl-tRNA synthetase 2, mitochondrial Enzyme 4.1E-03 0.644 0.423
PHACTR1 Q9C0D0 phosphatase and actin regulator 1 Enzyme modulator 0.64 0.663 0.423
AARS1 P49588 alanyl-tRNA synthetase 1 Nucleic acid binding 1.8E-08 0.647 0.462
PIGP P57054 phosphatidylinositol glycan anchor biosynthesis class P 1.9E-03 0.633 0.462
GABRB2 P47870 gamma-aminobutyric acid type A receptor subunit beta2 Ion channel 0.85 0.619 0.500
YWHAG P61981 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma Chaperone 0.96 0.621 0.500
HIBCH Q6NVY1 3-hydroxyisobutyryl-CoA hydrolase Enzyme 2.6E-13 0.700 0.500
NEUROD2 Q15784 neuronal differentiation 2 Enzyme 0.94 0.619 0.538
SCN3A Q9NY46 sodium voltage-gated channel alpha subunit 3 Ion channel 1.00 0.617 0.538
CHD2 O14647 chromodomain helicase DNA binding protein 2 1.00 0.585 0.577
KCNA1 Q09470 potassium voltage-gated channel subfamily A member 1 Ion channel 7.6E-02 0.573 0.577
TRNK tRNA 0.608 0.577
PIGQ Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 1.4E-06 0.610 0.577
SLC25A22 Q9H936 solute carrier family 25 member 22 Transporter 6.6E-03 0.595 0.577
FGF12 P61328 fibroblast growth factor 12 Signaling 0.62 0.619 0.615
ND2 P03891 MTND2 0.601 0.615
SPTAN1 Q13813 spectrin alpha, non-erythrocytic 1 1.00 0.601 0.615
TBCD Q9BTW9 tubulin folding cofactor D Cellular structure 1.0E-07 0.599 0.615
ND3 P03897 NADH dehydrogenase, subunit 3 (complex I) 0.604 0.654
PIGA P37287 phosphatidylinositol glycan anchor biosynthesis class A 0.96 0.575 0.654