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
ACER3 Q9NUN7 alkaline ceramidase 3 0.87 0.743 0.423
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
ADAR P55265 adenosine deaminase RNA specific Enzyme 2.6E-02 0.501 0.808
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
ADPRS Q9NX46 ADP-ribosylserine hydrolase 5.8E-04 0.743 0.308
AGA P20933 aspartylglucosaminidase Enzyme 4.3E-06 0.570 0.808
AIFM1 O95831 apoptosis inducing factor mitochondria associated 1 Enzyme 1.00 0.527 0.769
AP3B2 Q13367 adaptor related protein complex 3 subunit beta 2 Transporter 0.77 0.691 0.346
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
ASPA P45381 aspartoacylase 4.1E-04 0.564 0.731
ATP6V1A P38606 ATPase H+ transporting V1 subunit A Transporter 0.87 0.579 0.615
BSCL2 Q96G97 BSCL2 lipid droplet biogenesis associated, seipin 1.1E-09 0.545 0.692
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
CCR5 P51681 C-C motif chemokine receptor 5 (gene/pseudogene) G-protein coupled receptor 4.3E-10 0.398 0.885
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
CDKN2A P42771 Q8N726 cyclin dependent kinase inhibitor 2A 0.39 0.300 0.885
CLN5 O75503 CLN5 intracellular trafficking protein 1.7E-08 0.705 0.269
CLN6 Q9NWW5 CLN6 transmembrane ER protein 1.0E-04 0.670 0.231
CLN8 Q9UBY8 CLN8 transmembrane ER and ERGIC protein 3.6E-03 0.682 0.423
CLPB Q9H078 caseinolytic mitochondrial matrix peptidase chaperone subunit B 5.0E-04 0.631 0.654