Disease: Epileptic encephalopathy
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
SZT2 Q5T011 SZT2 subunit of KICSTOR complex 2.3E-14 0.670 0.423
PARS2 Q7L3T8 prolyl-tRNA synthetase 2, mitochondrial Enzyme 4.1E-03 0.644 0.423
ARV1 Q9H2C2 ARV1 homolog, fatty acid homeostasis modulator 3.6E-06 0.691 0.423
CARS2 Q9HA77 cysteinyl-tRNA synthetase 2, mitochondrial Enzyme 9.6E-08 0.700 0.423
DOCK7 Q96N67 dedicator of cytokinesis 7 Enzyme modulator 6.4E-06 0.682 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
KCNB1 Q14721 potassium voltage-gated channel subfamily B member 1 Ion channel 1.00 0.650 0.462
KCNQ3 O43525 potassium voltage-gated channel subfamily Q member 3 Ion channel 0.80 0.604 0.462
SLC25A12 O75746 solute carrier family 25 member 12 Transporter 0.22 0.711 0.462
PIGP P57054 phosphatidylinositol glycan anchor biosynthesis class P 1.9E-03 0.633 0.462
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
MFF Q9GZY8 mitochondrial fission factor 6.5E-02 0.705 0.462
RARS2 Q5T160 arginyl-tRNA synthetase 2, mitochondrial 7.7E-14 0.663 0.462
PCDH19 Q8TAB3 protocadherin 19 1.00 0.599 0.462
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
ROGDI Q9GZN7 rogdi atypical leucine zipper 2.6E-09 0.663 0.462
GABRB1 P18505 gamma-aminobutyric acid type A receptor subunit beta1 Ion channel 0.98 0.686 0.500
GABRB2 P47870 gamma-aminobutyric acid type A receptor subunit beta2 Ion channel 0.85 0.619 0.500
ITPA Q9BY32 inosine triphosphatase Enzyme 1.0E-07 0.604 0.500
VARS1 P26640 valyl-tRNA synthetase 1 1.8E-08 0.711 0.500
DPM2 O94777 dolichyl-phosphate mannosyltransferase subunit 2, regulatory 0.32 0.666 0.500
CUX2 O14529 cut like homeobox 2 Transcription factor 1.00 0.644 0.500
CIZ1 Q9ULV3 CDKN1A interacting zinc finger protein 1 6.3E-02 0.617 0.500
PNPO Q9NVS9 pyridoxamine 5'-phosphate oxidase Enzyme 1.1E-08 0.659 0.500