Disease: Encephalopathies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABCB6 Q9NP58 ATP binding cassette subfamily B member 6 (Langereis blood group) Transporter 8.6E-19 0.431 0.885
ACY1 Q03154 aminoacylase 1 6.9E-09 0.653 0.577
APOE P02649 apolipoprotein E 1.9E-03 0.338 0.962
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ATAD3A Q9NVI7 ATPase family AAA domain containing 3A Enzyme 4.1E-09 0.628 0.692
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
BCAP31 P51572 B cell receptor associated protein 31 Transporter 0.43 0.579 0.808
C19orf12 Q9NSK7 chromosome 19 open reading frame 12 0.34 0.641 0.615
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
CACNA1B Q00975 calcium voltage-gated channel subunit alpha1 B Ion channel 1.00 0.650 0.577
CASP3 P42574 caspase 3 Enzyme 0.10 0.351 0.923
COQ8A Q8NI60 coenzyme Q8A Kinase 9.3E-11 0.674 0.385
COX2 P00403 cytochrome c oxidase subunit II Enzyme 0.352 0.962
EEF1A2 Q05639 eukaryotic translation elongation factor 1 alpha 2 Enzyme 1.00 0.554 0.808
GABRA1 P14867 gamma-aminobutyric acid type A receptor subunit alpha1 Ion channel 0.91 0.563 0.577
GABRB3 P28472 gamma-aminobutyric acid type A receptor subunit beta3 Ion channel 0.95 0.546 0.615
GABRG2 P18507 gamma-aminobutyric acid type A receptor subunit gamma2 Ion channel 0.74 0.548 0.654
GCDH Q92947 glutaryl-CoA dehydrogenase 4.9E-03 0.691 0.385
GCH1 P30793 GTP cyclohydrolase 1 Enzyme 0.90 0.511 0.846
HIBCH Q6NVY1 3-hydroxyisobutyryl-CoA hydrolase Enzyme 2.6E-13 0.700 0.500
HLA-B P01889 major histocompatibility complex, class I, B 3.9E-05 0.379 0.885
KCNT1 Q5JUK3 potassium sodium-activated channel subfamily T member 1 Ion channel 2.8E-05 0.610 0.308
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
ND1 P03886 NADH dehydrogenase, subunit 1 (complex I) Enzyme 0.522 0.769
ND3 P03897 NADH dehydrogenase, subunit 3 (complex I) 0.604 0.654