Disease: Global developmental delay
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ZNF292 O60281 zinc finger protein 292 Enzyme 1.00 0.695 0.423
WWOX Q9NZC7 WW domain containing oxidoreductase Enzyme 1.2E-15 0.453 0.808
WDR45 Q9Y484 WD repeat domain 45 0.99 0.647 0.423
VARS2 Q5ST30 valyl-tRNA synthetase 2, mitochondrial 5.8E-17 0.666 0.577
VARS1 P26640 valyl-tRNA synthetase 1 1.8E-08 0.711 0.500
USP9X Q93008 ubiquitin specific peptidase 9 X-linked 1.00 0.502 0.846
UGP2 Q16851 UDP-glucose pyrophosphorylase 2 1.4E-08 0.711 0.308
UBA5 Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 2.5E-04 0.582 0.731
TWNK Q96RR1 twinkle mtDNA helicase Enzyme 3.2E-03 0.516 0.692
TRIT1 Q9H3H1 tRNA isopentenyltransferase 1 Enzyme 4.1E-11 0.621 0.692
TRIM8 Q9BZR9 tripartite motif containing 8 0.99 0.588 0.731
TBC1D24 Q9ULP9 TBC1 domain family member 24 Enzyme modulator 1.3E-08 0.530 0.808
SZT2 Q5T011 SZT2 subunit of KICSTOR complex 2.3E-14 0.670 0.423
SYNJ1 O43426 synaptojanin 1 Enzyme 0.43 0.576 0.577
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
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
SPATA5 Q8NB90 spermatogenesis associated 5 9.1E-20 0.670 0.654
SOX5 P35711 SRY-box transcription factor 5 1.00 0.545 0.769
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
SLC9A6 Q92581 solute carrier family 9 member A6 Transporter 1.00 0.516 0.846
SLC6A1 P30531 solute carrier family 6 member 1 Transporter 1.00 0.592 0.538
SLC35A3 Q9Y2D2 solute carrier family 35 member A3 Transporter 2.6E-03 0.716 0.308
SLC35A2 P78381 solute carrier family 35 member A2 Transporter 0.72 0.525 0.808
SLC2A1 P11166 solute carrier family 2 member 1 Transporter 0.99 0.388 0.808