Disease: Encephalopathies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AMT P48728 aminomethyltransferase 2.7E-03 0.674 0.692
ASS1 P00966 argininosuccinate synthase 1 Enzyme 1.5E-09 0.523 0.731
ATP5F1D P30049 ATP synthase F1 subunit delta Transporter 7.4E-02 0.674 0.500
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
CPT2 P23786 carnitine palmitoyltransferase 2 Enzyme 4.6E-10 0.542 0.769
DLD P09622 dihydrolipoamide dehydrogenase Enzyme 9.5E-03 0.517 0.769
EIF2B1 Q14232 eukaryotic translation initiation factor 2B subunit alpha 7.6E-05 0.663 0.538
EIF2B2 P49770 eukaryotic translation initiation factor 2B subunit beta 2.1E-10 0.647 0.538
EIF2B4 Q9UI10 eukaryotic translation initiation factor 2B subunit delta 0.96 0.659 0.538
FOXRED1 Q96CU9 FAD dependent oxidoreductase domain containing 1 Enzyme 2.0E-16 0.633 0.462
GABRB2 P47870 gamma-aminobutyric acid type A receptor subunit beta2 Ion channel 0.85 0.619 0.500
GCH1 P30793 GTP cyclohydrolase 1 Enzyme 0.90 0.511 0.846
GCSH P23434 glycine cleavage system protein H 1.6E-03 0.760 0.385
GLDC P23378 glycine decarboxylase Enzyme 6.6E-28 0.628 0.577
HMBS P08397 hydroxymethylbilane synthase Enzyme 0.95 0.559 0.731
HMGCL P35914 3-hydroxy-3-methylglutaryl-CoA lyase Enzyme 2.6E-06 0.691 0.462
IFNG P01579 interferon gamma 0.47 0.288 0.962
IL1A P01583 interleukin 1 alpha 1.6E-04 0.333 0.962
IL1B P01584 interleukin 1 beta 0.13 0.276 0.962
LYRM7 Q5U5X0 LYR motif containing 7 2.2E-02 0.716 0.346
NAGS Q8N159 N-acetylglutamate synthase 4.0E-08 0.716 0.423
NAXD Q8IW45 NAD(P)HX dehydratase 7.0E-03 0.839 0.231
ND1 P03886 NADH dehydrogenase, subunit 1 (complex I) Enzyme 0.522 0.769
ND2 P03891 MTND2 0.601 0.615
ND3 P03897 NADH dehydrogenase, subunit 3 (complex I) 0.604 0.654