Disease: Global developmental delay
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ND1 P03886 NADH dehydrogenase, subunit 1 (complex I) Enzyme 0.522 0.769
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346
FCSK Q8N0W3 fucose kinase Kinase 1.0E-29 0.769 0.192
DOCK6 Q96HP0 dedicator of cytokinesis 6 Enzyme modulator 1.3E-26 0.610 0.577
ALDH7A1 P49419 aldehyde dehydrogenase 7 family member A1 Enzyme 1.4E-22 0.551 0.769
SPATA5 Q8NB90 spermatogenesis associated 5 9.1E-20 0.670 0.654
SCN9A Q15858 sodium voltage-gated channel alpha subunit 9 Ion channel 4.8E-19 0.543 0.615
ABCB6 Q9NP58 ATP binding cassette subfamily B member 6 (Langereis blood group) Transporter 8.6E-19 0.431 0.885
VARS2 Q5ST30 valyl-tRNA synthetase 2, mitochondrial 5.8E-17 0.666 0.577
WWOX Q9NZC7 WW domain containing oxidoreductase Enzyme 1.2E-15 0.453 0.808
SZT2 Q5T011 SZT2 subunit of KICSTOR complex 2.3E-14 0.670 0.423
PNKP Q96T60 polynucleotide kinase 3'-phosphatase 3.7E-14 0.553 0.692
RARS2 Q5T160 arginyl-tRNA synthetase 2, mitochondrial 7.7E-14 0.663 0.462
QARS1 P47897 glutaminyl-tRNA synthetase 1 Enzyme 2.7E-13 0.716 0.231
BRAT1 Q6PJG6 BRCA1 associated ATM activator 1 7.4E-13 0.695 0.231
ADSL P30566 adenylosuccinate lyase Enzyme 8.9E-12 0.631 0.654
TRIT1 Q9H3H1 tRNA isopentenyltransferase 1 Enzyme 4.1E-11 0.621 0.692
PIGO Q8TEQ8 phosphatidylinositol glycan anchor biosynthesis class O 6.1E-11 0.636 0.615
EPRS1 P07814 glutamyl-prolyl-tRNA synthetase 1 Enzyme 1.0E-09 0.644 0.538
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
ROGDI Q9GZN7 rogdi atypical leucine zipper 2.6E-09 0.663 0.462
CNTNAP2 Q9UHC6 contactin associated protein 2 2.9E-09 0.530 0.846
FARS2 O95363 phenylalanyl-tRNA synthetase 2, mitochondrial Enzyme 9.3E-09 0.615 0.731
PNPO Q9NVS9 pyridoxamine 5'-phosphate oxidase Enzyme 1.1E-08 0.659 0.500
TBC1D24 Q9ULP9 TBC1 domain family member 24 Enzyme modulator 1.3E-08 0.530 0.808