Disease: Delayed speech and language development
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
TSPEAR-AS1 TSPEAR antisense RNA 1 0.821 0.269
NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
TPP1 O14773 tripeptidyl peptidase 1 Enzyme 6.3E-07 0.551 0.808
SYNJ1 O43426 synaptojanin 1 Enzyme 0.43 0.576 0.577
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
PLA2G6 O60733 phospholipase A2 group VI Enzyme modulator 2.5E-10 0.476 0.846
PRKRA O75569 protein activator of interferon induced protein kinase EIF2AK2 Kinase 0.42 0.579 0.615
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
CP P00450 ceruloplasmin Enzyme 4.2E-10 0.466 0.846
ATP6 P00846 ATP synthase F0 subunit 6 Transporter 0.541 0.731
TUBB4A P04350 tubulin beta 4A class IVa Cellular structure 0.11 0.608 0.615
TH P07101 tyrosine hydroxylase 1.7E-06 0.462 0.885
SLC2A1 P11166 solute carrier family 2 member 1 Transporter 0.99 0.388 0.808
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
EZR P15311 ezrin Cellular structure 0.18 0.476 0.808
GLB1 P16278 galactosidase beta 1 Enzyme 7.9E-10 0.448 0.808
SYT1 P21579 synaptotagmin 1 Transporter 0.60 0.412 0.846
TAF1 P21675 TATA-box binding protein associated factor 1 Kinase 1.00 0.581 0.808
YY1 P25490 YY1 transcription factor Transcription factor 0.99 0.481 0.808
CLIP1 P30622 CAP-Gly domain containing linker protein 1 Cellular structure 0.68 0.617 0.654
SPR P35270 sepiapterin reductase 4.3E-02 0.631 0.654
NUP62 P37198 nucleoporin 62 Transporter 0.95 0.470 0.885
GABRB2 P47870 gamma-aminobutyric acid type A receptor subunit beta2 Ion channel 0.85 0.619 0.500