Disease: Delayed speech and language development
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
YY1 P25490 YY1 transcription factor Transcription factor 0.99 0.481 0.808
WDR62 O43379 WD repeat domain 62 2.4E-23 0.597 0.615
TH P07101 tyrosine hydroxylase 1.7E-06 0.462 0.885
TRMT1 Q9NXH9 tRNA methyltransferase 1 1.9E-12 0.821 0.269
TMCO1 Q9UM00 transmembrane and coiled-coil domains 1 9.4E-10 0.588 0.654
TTI2 Q6NXR4 TELO2 interacting protein 2 3.6E-07 0.736 0.346
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
STAG1 Q8WVM7 stromal antigen 1 Nucleic acid binding 1.00 0.656 0.577
SLC2A1 P11166 solute carrier family 2 member 1 Transporter 0.99 0.388 0.808
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
SIN3A Q96ST3 SIN3 transcription regulator family member A Enzyme 1.00 0.551 0.692
SHANK3 Q9BYB0 SH3 and multiple ankyrin repeat domains 3 1.00 0.550 0.731
SHANK2 Q9UPX8 SH3 and multiple ankyrin repeat domains 2 8.4E-07 0.663 0.385
RAI1 Q7Z5J4 retinoic acid induced 1 Transcription factor 1.00 0.545 0.731
RAB39B Q96DA2 RAB39B, member RAS oncogene family 0.83 0.619 0.615
PRKRA O75569 protein activator of interferon induced protein kinase EIF2AK2 Kinase 0.42 0.579 0.615
KCNA2 P16389 potassium voltage-gated channel subfamily A member 2 Ion channel 0.91 0.612 0.577
PQBP1 O60828 polyglutamine binding protein 1 Transcription factor 0.79 0.570 0.654
PHIP Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 1.00 0.595 0.769
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
PTCHD1 Q96NR3 patched domain containing 1 Receptor 0.98 0.678 0.385
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885