Disease: Intellectual Disability
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
AHR P35869 aryl hydrocarbon receptor Transcription factor 1.00 0.410 0.923
AKT3 Q9Y243 AKT serine/threonine kinase 3 Kinase 1.00 0.512 0.808
AP1S1 P61966 adaptor related protein complex 1 subunit sigma 1 Transporter 1.0E-01 0.743 0.308
AP3B2 Q13367 adaptor related protein complex 3 subunit beta 2 Transporter 0.77 0.691 0.346
ARG1 P05089 arginase 1 Enzyme 3.6E-04 0.476 0.846
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
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
BAZ1B Q9UIG0 bromodomain adjacent to zinc finger domain 1B 1.00 0.530 0.731
BBS4 Q96RK4 Bardet-Biedl syndrome 4 1.5E-16 0.647 0.615
BCL11A Q9H165 BAF chromatin remodeling complex subunit BCL11A Transcription factor 0.97 0.541 0.769
BCL11B Q9C0K0 BAF chromatin remodeling complex subunit BCL11B Transcription factor 0.99 0.568 0.731
BDNF P23560 brain derived neurotrophic factor Signaling 0.66 0.345 0.923
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
CACNA1B Q00975 calcium voltage-gated channel subunit alpha1 B Ion channel 1.00 0.650 0.577
CERT1 Q9Y5P4 ceramide transporter 1 Transporter 0.67 0.674 0.500
CNNM2 Q9H8M5 cyclin and CBS domain divalent metal cation transport mediator 2 1.00 0.641 0.346
CNTNAP2 Q9UHC6 contactin associated protein 2 2.9E-09 0.530 0.846
CPS1 P31327 carbamoyl-phosphate synthase 1 Enzyme 1.1E-09 0.590 0.615
CRB1 P82279 crumbs cell polarity complex component 1 5.6E-16 0.570 0.654
CWC27 Q6UX04 CWC27 spliceosome associated cyclophilin Enzyme 4.6E-07 0.722 0.346
DCC P43146 DCC netrin 1 receptor 0.99 0.471 0.808
DNM1 Q05193 dynamin 1 Enzyme modulator 1.00 0.595 0.692