Disease: Developmental regression
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
TBC1D24 Q9ULP9 TBC1 domain family member 24 Enzyme modulator 1.3E-08 0.530 0.808
CLN5 O75503 CLN5 intracellular trafficking protein 1.7E-08 0.705 0.269
AARS1 P49588 alanyl-tRNA synthetase 1 Nucleic acid binding 1.8E-08 0.647 0.462
SUMF1 Q8NBK3 sulfatase modifying factor 1 2.3E-08 0.641 0.538
NARS2 Q96I59 asparaginyl-tRNA synthetase 2, mitochondrial Enzyme 7.1E-08 0.650 0.577
CARS2 Q9HA77 cysteinyl-tRNA synthetase 2, mitochondrial Enzyme 9.6E-08 0.700 0.423
TK2 O00142 thymidine kinase 2 Kinase 3.9E-07 0.585 0.615
TPP1 O14773 tripeptidyl peptidase 1 Enzyme 6.3E-07 0.551 0.808
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808
NAXE Q8NCW5 NAD(P)HX epimerase 2.4E-06 0.743 0.346
ARV1 Q9H2C2 ARV1 homolog, fatty acid homeostasis modulator 3.6E-06 0.691 0.423
SERAC1 Q96JX3 serine active site containing 1 3.9E-06 0.686 0.385
AGA P20933 aspartylglucosaminidase Enzyme 4.3E-06 0.570 0.808
HACE1 Q8IYU2 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 Enzyme 6.1E-06 0.601 0.692
XPA P23025 XPA, DNA damage recognition and repair factor Nucleic acid binding 7.9E-05 0.520 0.846
CLN6 Q9NWW5 CLN6 transmembrane ER protein 1.0E-04 0.670 0.231
TANGO2 Q6ICL3 transport and golgi organization 2 homolog 1.5E-04 0.666 0.615
UBA5 Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 2.5E-04 0.582 0.731
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
PEX19 P40855 peroxisomal biogenesis factor 19 Storage 3.2E-04 0.585 0.731
TRAK1 Q9UPV9 trafficking kinesin protein 1 Transporter 3.7E-04 0.674 0.423
ASPA P45381 aspartoacylase 4.1E-04 0.564 0.731
CLPB Q9H078 caseinolytic mitochondrial matrix peptidase chaperone subunit B 5.0E-04 0.631 0.654
SLC13A5 Q86YT5 solute carrier family 13 member 5 Transporter 5.1E-04 0.608 0.577
ADPRS Q9NX46 ADP-ribosylserine hydrolase 5.8E-04 0.743 0.308