Disease: Developmental regression
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
GABBR2 O75899 gamma-aminobutyric acid type B receptor subunit 2 G-protein coupled receptor 1.00 0.650 0.538
GABRD O14764 gamma-aminobutyric acid type A receptor subunit delta Ion channel 0.99 0.558 0.692
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808
GCDH Q92947 glutaryl-CoA dehydrogenase 4.9E-03 0.691 0.385
GLRX5 Q86SX6 glutaredoxin 5 Enzyme 0.75 0.659 0.538
HLA-B P01889 major histocompatibility complex, class I, B 3.9E-05 0.379 0.885
HNRNPH2 P55795 heterogeneous nuclear ribonucleoprotein H2 Nucleic acid binding 0.95 0.691 0.462
IL10 P22301 interleukin 10 5.9E-03 0.281 0.923
IL12A P29459 interleukin 12A 4.7E-02 0.491 0.808
IL12A-AS1 IL12A antisense RNA 1 0.633 0.654
IL23R Q5VWK5 interleukin 23 receptor Signaling 5.6E-04 0.466 0.769
IQSEC2 Q5JU85 IQ motif and Sec7 domain ArfGEF 2 1.00 0.573 0.577
KLRC4 O43908 killer cell lectin like receptor C4 5.7E-03 0.666 0.654
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
LYRM7 Q5U5X0 LYR motif containing 7 2.2E-02 0.716 0.346
LYST Q99698 lysosomal trafficking regulator 1.5E-02 0.621 0.692
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MEFV O15553 MEFV innate immuity regulator, pyrin 1.0E-14 0.440 0.885
MLH1 P40692 mutL homolog 1 Nucleic acid binding 3.4E-05 0.399 0.808
MLH3 Q9UHC1 mutL homolog 3 Nucleic acid binding 4.9E-08 0.582 0.538
MSH2 P43246 mutS homolog 2 Nucleic acid binding 0.90 0.406 0.808
MSH6 P52701 mutS homolog 6 Nucleic acid binding 3.7E-05 0.462 0.731
NDUFAF6 Q330K2 NADH:ubiquinone oxidoreductase complex assembly factor 6 9.1E-08 0.659 0.615
NOTCH3 Q9UM47 notch receptor 3 0.41 0.435 0.808
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731