Disease: Severe intellectual disability
Source: INFERRED ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ASPM Q8IZT6 abnormal spindle microtubule assembly 3.4E-49 0.526 0.769
RTTN Q86VV8 rotatin 9.0E-34 0.619 0.654
CENPJ Q9HC77 centromere protein J Enzyme 2.1E-27 0.546 0.846
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
BCS1L Q9Y276 BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 4.7E-13 0.534 0.808
LARP7 Q4G0J3 La ribonucleoprotein 7, transcriptional regulator Nucleic acid binding 9.3E-08 0.674 0.615
OTUD6B Q8N6M0 OTU deubiquitinase 6B Enzyme 1.3E-07 0.659 0.538
C12orf4 Q9NQ89 chromosome 12 open reading frame 4 1.1E-05 0.691 0.308
MFSD2A Q8NA29 major facilitator superfamily domain containing 2A Transporter 1.1E-02 0.626 0.538
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
EIF2S3 P41091 eukaryotic translation initiation factor 2 subunit gamma Enzyme 0.96 0.604 0.731
TUBA1A Q71U36 tubulin alpha 1a Cellular structure 0.97 0.597 0.769
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
ZNF711 Q9Y462 zinc finger protein 711 0.98 0.691 0.423
PAK3 O75914 p21 (RAC1) activated kinase 3 Kinase 0.99 0.569 0.731
EEF1A2 Q05639 eukaryotic translation elongation factor 1 alpha 2 Enzyme 1.00 0.554 0.808
RAD21 O60216 RAD21 cohesin complex component 1.00 0.528 0.846
SLC9A6 Q92581 solute carrier family 9 member A6 Transporter 1.00 0.516 0.846
CAMK2A Q9UQM7 calcium/calmodulin dependent protein kinase II alpha Kinase 1.00 0.612 0.538
CLCN4 P51793 chloride voltage-gated channel 4 Ion channel 1.00 0.587 0.654
NFIX Q14938 nuclear factor I X Nucleic acid binding 1.00 0.547 0.769
PHC1 P78364 polyhomeotic homolog 1 Nucleic acid binding 1.00 0.644 0.692