Disease: Delayed speech and language development
Source: INFERRED ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AARS1 P49588 alanyl-tRNA synthetase 1 Nucleic acid binding 1.8E-08 0.647 0.462
ADK P55263 adenosine kinase Kinase 3.1E-04 0.584 0.769
AFF3 P51826 AF4/FMR2 family member 3 Transcription factor 1.00 0.623 0.692
ANK3 Q12955 ankyrin 3 1.00 0.578 0.654
AP3B2 Q13367 adaptor related protein complex 3 subunit beta 2 Transporter 0.77 0.691 0.346
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
B3GALNT2 Q8NCR0 beta-1,3-N-acetylgalactosaminyltransferase 2 Enzyme 2.8E-07 0.578 0.577
BCL11B Q9C0K0 BAF chromatin remodeling complex subunit BCL11B Transcription factor 0.99 0.568 0.731
BMPR1B O00238 bone morphogenetic protein receptor type 1B Kinase 1.00 0.573 0.615
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
BRCA1 P38398 BRCA1 DNA repair associated Enzyme 9.2E-29 0.367 0.923
BRSK2 Q8IWQ3 BR serine/threonine kinase 2 Kinase 0.95 0.700 0.500
CACNA1B Q00975 calcium voltage-gated channel subunit alpha1 B Ion channel 1.00 0.650 0.577
CAMTA1 Q9Y6Y1 calmodulin binding transcription activator 1 Transcription factor 1.00 0.599 0.615
CCDC39 Q9UFE4 coiled-coil domain containing 39 7.9E-12 0.641 0.615
CLIP1 P30622 CAP-Gly domain containing linker protein 1 Cellular structure 0.68 0.617 0.654
DMD P11532 dystrophin 1.00 0.423 0.923
DNM1 Q05193 dynamin 1 Enzyme modulator 1.00 0.595 0.692
DPYD Q12882 dihydropyrimidine dehydrogenase Enzyme 3.4E-22 0.493 0.846
DYNC1I2 Q13409 dynein cytoplasmic 1 intermediate chain 2 Cellular structure 1.1E-08 0.760 0.385
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
GNB1 P62873 G protein subunit beta 1 Enzyme 1.00 0.617 0.731
IGF1R P08069 insulin like growth factor 1 receptor Kinase 0.97 0.399 0.885
KANSL1 Q7Z3B3 KAT8 regulatory NSL complex subunit 1 1.00 0.592 0.731