Disease: Severe intellectual disability
Source: INFERRED ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
C12orf4 Q9NQ89 chromosome 12 open reading frame 4 1.1E-05 0.691 0.308
ZNF711 Q9Y462 zinc finger protein 711 0.98 0.691 0.423
AHDC1 Q5TGY3 AT-hook DNA binding motif containing 1 1.00 0.700 0.500
CAMK2A Q9UQM7 calcium/calmodulin dependent protein kinase II alpha Kinase 1.00 0.612 0.538
KDM5C P41229 lysine demethylase 5C 1.00 0.581 0.538
OTUD6B Q8N6M0 OTU deubiquitinase 6B Enzyme 1.3E-07 0.659 0.538
MFSD2A Q8NA29 major facilitator superfamily domain containing 2A Transporter 1.1E-02 0.626 0.538
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577
LARP7 Q4G0J3 La ribonucleoprotein 7, transcriptional regulator Nucleic acid binding 9.3E-08 0.674 0.615
CLCN4 P51793 chloride voltage-gated channel 4 Ion channel 1.00 0.587 0.654
HNRNPU Q00839 heterogeneous nuclear ribonucleoprotein U 1.00 0.575 0.654
RTTN Q86VV8 rotatin 9.0E-34 0.619 0.654
GATAD2B Q8WXI9 GATA zinc finger domain containing 2B Nucleic acid binding 1.00 0.593 0.654
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
PHC1 P78364 polyhomeotic homolog 1 Nucleic acid binding 1.00 0.644 0.692
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
UBE3A Q05086 ubiquitin protein ligase E3A 1.00 0.561 0.692
EIF2S3 P41091 eukaryotic translation initiation factor 2 subunit gamma Enzyme 0.96 0.604 0.731
PAK3 O75914 p21 (RAC1) activated kinase 3 Kinase 0.99 0.569 0.731
KAT6B Q8WYB5 lysine acetyltransferase 6B Enzyme 1.00 0.525 0.731
SETD5 Q9C0A6 SET domain containing 5 1.00 0.560 0.731
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769