Disease: Developmental delay (disorder)
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ALG8 Q9BVK2 ALG8 alpha-1,3-glucosyltransferase Enzyme 1.2E-08 0.659 0.577
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
AP4M1 O00189 adaptor related protein complex 4 subunit mu 1 Extracellular structure 4.5E-17 0.638 0.500
AP4S1 Q9Y587 adaptor related protein complex 4 subunit sigma 1 Transporter 1.7E-06 0.674 0.385
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ARID2 Q68CP9 AT-rich interaction domain 2 1.00 0.543 0.808
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ASPM Q8IZT6 abnormal spindle microtubule assembly 3.4E-49 0.526 0.769
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
BCAP31 P51572 B cell receptor associated protein 31 Transporter 0.43 0.579 0.808
BCL11A Q9H165 BAF chromatin remodeling complex subunit BCL11A Transcription factor 0.97 0.541 0.769
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846
BTD P43251 biotinidase Enzyme 1.5E-07 0.628 0.654
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
CAMTA1 Q9Y6Y1 calmodulin binding transcription activator 1 Transcription factor 1.00 0.599 0.615
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
CD38 P28907 CD38 molecule Enzyme 2.3E-06 0.407 0.885
CDC42 P60953 cell division cycle 42 Enzyme modulator 0.79 0.458 0.846
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692