Disease: Global developmental delay
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
HTC2 hypertrichosis 2 (generalized, congenital) 0.392 0.808
COX2 P00403 cytochrome c oxidase subunit II Enzyme 0.352 0.962
NANS Q9NR45 N-acetylneuraminate synthase Enzyme 0.545 0.692
RSS Russell Silver syndrome 0.578 0.692
PWAR1 Prader Willi/Angelman region RNA 1 0.490 0.769
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346
MTCO2P12 MT-CO2 pseudogene 12 0.368 0.962
DUOX2 Q9NRD8 dual oxidase 2 Enzyme 4.5E-56 0.533 0.769
FIG4 Q92562 FIG4 phosphoinositide 5-phosphatase 2.3E-34 0.551 0.731
CNTN6 Q9UQ52 contactin 6 Receptor 9.0E-31 0.678 0.462
EMC1 Q8N766 ER membrane protein complex subunit 1 6.7E-26 0.700 0.462
ALDH7A1 P49419 aldehyde dehydrogenase 7 family member A1 Enzyme 1.4E-22 0.551 0.769
TPO P07202 thyroid peroxidase Enzyme 1.8E-21 0.455 0.846
PIGN O95427 phosphatidylinositol glycan anchor biosynthesis class N Extracellular structure 2.3E-21 0.558 0.615
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
SCN7A Q01118 sodium voltage-gated channel alpha subunit 7 Ion channel 2.2E-17 0.585 0.692
VARS2 Q5ST30 valyl-tRNA synthetase 2, mitochondrial 5.8E-17 0.666 0.577
SLC12A1 Q13621 solute carrier family 12 member 1 Transporter 6.7E-17 0.631 0.538
TRPV1 Q8NER1 transient receptor potential cation channel subfamily V member 1 Ion channel 1.0E-16 0.446 0.885
FOXRED1 Q96CU9 FAD dependent oxidoreductase domain containing 1 Enzyme 2.0E-16 0.633 0.462
ERMARD Q5T6L9 ER membrane associated RNA degradation 5.8E-16 0.647 0.538
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
WWOX Q9NZC7 WW domain containing oxidoreductase Enzyme 1.2E-15 0.453 0.808
MARS1 P56192 methionyl-tRNA synthetase 1 2.1E-15 0.638 0.654