Disease: Developmental regression
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
KCNB1 Q14721 potassium voltage-gated channel subfamily B member 1 Ion channel 1.00 0.650 0.462
KCTD7 Q96MP8 potassium channel tetramerization domain containing 7 Enzyme modulator 6.3E-04 0.650 0.423
LYRM7 Q5U5X0 LYR motif containing 7 2.2E-02 0.716 0.346
MBTPS2 O43462 membrane bound transcription factor peptidase, site 2 Enzyme 1.00 0.513 0.769
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
NAGA P17050 alpha-N-acetylgalactosaminidase 1.8E-11 0.647 0.538
NARS2 Q96I59 asparaginyl-tRNA synthetase 2, mitochondrial Enzyme 7.1E-08 0.650 0.577
NAXD Q8IW45 NAD(P)HX dehydratase 7.0E-03 0.839 0.231
NAXE Q8NCW5 NAD(P)HX epimerase 2.4E-06 0.743 0.346
NDUFS1 P28331 NADH:ubiquinone oxidoreductase core subunit S1 Enzyme 6.6E-11 0.595 0.692
NDUFS2 O75306 NADH:ubiquinone oxidoreductase core subunit S2 Enzyme 1.4E-03 0.601 0.654
NDUFV1 P49821 NADH:ubiquinone oxidoreductase core subunit V1 6.4E-11 0.617 0.538
NDUFV2 P19404 NADH:ubiquinone oxidoreductase core subunit V2 5.6E-03 0.610 0.500
NECAP1 Q8NC96 NECAP endocytosis associated 1 0.13 0.691 0.346
NEUROD2 Q15784 neuronal differentiation 2 Enzyme 0.94 0.619 0.538
NGLY1 Q96IV0 N-glycanase 1 Enzyme 1.5E-13 0.601 0.654
NTRK2 Q16620 neurotrophic receptor tyrosine kinase 2 Kinase 1.00 0.479 0.808
NUP214 P35658 nucleoporin 214 Nucleic acid binding 5.5E-02 0.638 0.385
NUS1 Q96E22 NUS1 dehydrodolichyl diphosphate synthase subunit 0.98 0.619 0.615
PARS2 Q7L3T8 prolyl-tRNA synthetase 2, mitochondrial Enzyme 4.1E-03 0.644 0.423
PCYT2 Q99447 phosphate cytidylyltransferase 2, ethanolamine Enzyme 8.6E-04 0.821 0.192
PEX19 P40855 peroxisomal biogenesis factor 19 Storage 3.2E-04 0.585 0.731
PIGT Q969N2 phosphatidylinositol glycan anchor biosynthesis class T 7.3E-10 0.633 0.615
PLA2G6 O60733 phospholipase A2 group VI Enzyme modulator 2.5E-10 0.476 0.846
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846