Disease: Delayed speech and language development
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
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
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
TH P07101 tyrosine hydroxylase 1.7E-06 0.462 0.885
L1CAM P32004 L1 cell adhesion molecule 1.00 0.475 0.769
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
YY1 P25490 YY1 transcription factor Transcription factor 0.99 0.481 0.808
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
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
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
RAI1 Q7Z5J4 retinoic acid induced 1 Transcription factor 1.00 0.545 0.731
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
SHANK3 Q9BYB0 SH3 and multiple ankyrin repeat domains 3 1.00 0.550 0.731
SIN3A Q96ST3 SIN3 transcription regulator family member A Enzyme 1.00 0.551 0.692
INPP5E Q9NRR6 inositol polyphosphate-5-phosphatase E 3.1E-03 0.561 0.615
PQBP1 O60828 polyglutamine binding protein 1 Transcription factor 0.79 0.570 0.654
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
PRKRA O75569 protein activator of interferon induced protein kinase EIF2AK2 Kinase 0.42 0.579 0.615
KDM5C P41229 lysine demethylase 5C 1.00 0.581 0.538
LAMA1 P25391 laminin subunit alpha 1 3.2E-32 0.582 0.808