Disease: Global developmental delay
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
POMC P01189 proopiomelanocortin 1.2E-04 0.356 0.846
SLC2A1 P11166 solute carrier family 2 member 1 Transporter 0.99 0.388 0.808
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
FLNA P21333 filamin A 1.00 0.419 0.846
ABCB6 Q9NP58 ATP binding cassette subfamily B member 6 (Langereis blood group) Transporter 8.6E-19 0.431 0.885
WWOX Q9NZC7 WW domain containing oxidoreductase Enzyme 1.2E-15 0.453 0.808
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
DHDDS Q86SQ9 dehydrodolichyl diphosphate synthase subunit Enzyme 0.25 0.468 0.885
DNM1L O00429 dynamin 1 like Enzyme modulator 5.7E-04 0.475 0.808
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
NTRK2 Q16620 neurotrophic receptor tyrosine kinase 2 Kinase 1.00 0.479 0.808
CAD P27708 carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase Enzyme 1.00 0.482 0.846
COL4A1 P02462 collagen type IV alpha 1 chain 1.00 0.484 0.731
PHGDH O43175 phosphoglycerate dehydrogenase Enzyme 1.3E-04 0.484 0.885
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
GLS O94925 glutaminase Enzyme 0.96 0.489 0.808
USP9X Q93008 ubiquitin specific peptidase 9 X-linked 1.00 0.502 0.846
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
CACNA1C Q13936 calcium voltage-gated channel subunit alpha1 C Ion channel 1.00 0.510 0.846
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731
SLC1A2 P43004 solute carrier family 1 member 2 Transporter 0.71 0.511 0.731
SLC9A6 Q92581 solute carrier family 9 member A6 Transporter 1.00 0.516 0.846
TWNK Q96RR1 twinkle mtDNA helicase Enzyme 3.2E-03 0.516 0.692