Disease: Developmental regression
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AARS1 P49588 alanyl-tRNA synthetase 1 Nucleic acid binding 1.8E-08 0.647 0.462
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
AP3B2 Q13367 adaptor related protein complex 3 subunit beta 2 Transporter 0.77 0.691 0.346
ARHGEF9 O43307 Cdc42 guanine nucleotide exchange factor 9 Enzyme modulator 1.00 0.691 0.385
ARV1 Q9H2C2 ARV1 homolog, fatty acid homeostasis modulator 3.6E-06 0.691 0.423
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ATP6V1A P38606 ATPase H+ transporting V1 subunit A Transporter 0.87 0.579 0.615
BOLA3 Q53S33 bolA family member 3 0.15 0.760 0.231
BSCL2 Q96G97 BSCL2 lipid droplet biogenesis associated, seipin 1.1E-09 0.545 0.692
C12orf65 Q9H3J6 chromosome 12 open reading frame 65 Nucleic acid binding 0.21 0.678 0.346
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
CAD P27708 carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase Enzyme 1.00 0.482 0.846
CARS2 Q9HA77 cysteinyl-tRNA synthetase 2, mitochondrial Enzyme 9.6E-08 0.700 0.423
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
CHD2 O14647 chromodomain helicase DNA binding protein 2 1.00 0.585 0.577
CNPY3 Q9BT09 canopy FGF signaling regulator 3 0.40 0.805 0.269
COQ8A Q8NI60 coenzyme Q8A Kinase 9.3E-11 0.674 0.385
CPLX1 O14810 complexin 1 0.82 0.576 0.654
CYFIP2 Q96F07 cytoplasmic FMR1 interacting protein 2 Enzyme modulator 1.00 0.633 0.731
DHDDS Q86SQ9 dehydrodolichyl diphosphate synthase subunit Enzyme 0.25 0.468 0.885
DNM1 Q05193 dynamin 1 Enzyme modulator 1.00 0.595 0.692
EEF1A2 Q05639 eukaryotic translation elongation factor 1 alpha 2 Enzyme 1.00 0.554 0.808
EPRS1 P07814 glutamyl-prolyl-tRNA synthetase 1 Enzyme 1.0E-09 0.644 0.538
FARS2 O95363 phenylalanyl-tRNA synthetase 2, mitochondrial Enzyme 9.3E-09 0.615 0.731