Disease: Global developmental delay
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346
SIK1 A0A0B4J2F2 P57059 salt inducible kinase 1 Kinase 0.94 0.544 0.731
DNM1L O00429 dynamin 1 like Enzyme modulator 5.7E-04 0.475 0.808
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
CUX2 O14529 cut like homeobox 2 Transcription factor 1.00 0.644 0.500
CHD2 O14647 chromodomain helicase DNA binding protein 2 1.00 0.585 0.577
GNB5 O14775 G protein subunit beta 5 Enzyme 6.4E-08 0.736 0.308
CPLX1 O14810 complexin 1 0.82 0.576 0.654
GRIN2D O15399 glutamate ionotropic receptor NMDA type subunit 2D Ion channel 1.00 0.650 0.538
PHGDH O43175 phosphoglycerate dehydrogenase Enzyme 1.3E-04 0.484 0.885
SYNJ1 O43426 synaptojanin 1 Enzyme 0.43 0.576 0.577
KCNQ3 O43525 potassium voltage-gated channel subfamily Q member 3 Ion channel 0.80 0.604 0.462
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
RNF13 O43567 ring finger protein 13 4.0E-04 0.722 0.346
ZNF292 O60281 zinc finger protein 292 Enzyme 1.00 0.695 0.423
HCN1 O60741 hyperpolarization activated cyclic nucleotide gated potassium channel 1 1.00 0.564 0.654
SLC25A12 O75746 solute carrier family 25 member 12 Transporter 0.22 0.711 0.462
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
DPM2 O94777 dolichyl-phosphate mannosyltransferase subunit 2, regulatory 0.32 0.666 0.500
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
GLS O94925 glutaminase Enzyme 0.96 0.489 0.808
FARS2 O95363 phenylalanyl-tRNA synthetase 2, mitochondrial Enzyme 9.3E-09 0.615 0.731
POMC P01189 proopiomelanocortin 1.2E-04 0.356 0.846
COL4A1 P02462 collagen type IV alpha 1 chain 1.00 0.484 0.731
ND1 P03886 NADH dehydrogenase, subunit 1 (complex I) Enzyme 0.522 0.769