Disease: Developmental regression
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
YWHAG P61981 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma Chaperone 0.96 0.621 0.500
UBA5 Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 2.5E-04 0.582 0.731
TRNW tRNA 0.563 0.731
TRNV tRNA 0.670 0.423
TRNL1 tRNA 0.534 0.731
TRNK tRNA 0.608 0.577
TRIM8 Q9BZR9 tripartite motif containing 8 0.99 0.588 0.731
TBCD Q9BTW9 tubulin folding cofactor D Cellular structure 1.0E-07 0.599 0.615
TBC1D24 Q9ULP9 TBC1 domain family member 24 Enzyme modulator 1.3E-08 0.530 0.808
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
ST3GAL3 Q11203 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 2.6E-03 0.606 0.654
SPTAN1 Q13813 spectrin alpha, non-erythrocytic 1 1.00 0.601 0.615
SLC25A22 Q9H936 solute carrier family 25 member 22 Transporter 6.6E-03 0.595 0.577
SIK1 A0A0B4J2F2 P57059 salt inducible kinase 1 Kinase 0.94 0.544 0.731
SCN3A Q9NY46 sodium voltage-gated channel alpha subunit 3 Ion channel 1.00 0.617 0.538
SCN2A Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 1.00 0.518 0.731
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
PNKP Q96T60 polynucleotide kinase 3'-phosphatase 3.7E-14 0.553 0.692
PLCB1 Q9NQ66 phospholipase C beta 1 Enzyme 0.98 0.595 0.654
PIGQ Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 1.4E-06 0.610 0.577
PIGP P57054 phosphatidylinositol glycan anchor biosynthesis class P 1.9E-03 0.633 0.462
PIGA P37287 phosphatidylinositol glycan anchor biosynthesis class A 0.96 0.575 0.654
PHACTR1 Q9C0D0 phosphatase and actin regulator 1 Enzyme modulator 0.64 0.663 0.423
PARS2 Q7L3T8 prolyl-tRNA synthetase 2, mitochondrial Enzyme 4.1E-03 0.644 0.423
NTRK2 Q16620 neurotrophic receptor tyrosine kinase 2 Kinase 1.00 0.479 0.808