Disease: Severe intellectual disability
Source: INFERRED ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
LARP7 Q4G0J3 La ribonucleoprotein 7, transcriptional regulator Nucleic acid binding 9.3E-08 0.674 0.615
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
MFSD2A Q8NA29 major facilitator superfamily domain containing 2A Transporter 1.1E-02 0.626 0.538
NFIX Q14938 nuclear factor I X Nucleic acid binding 1.00 0.547 0.769
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
OTUD6B Q8N6M0 OTU deubiquitinase 6B Enzyme 1.3E-07 0.659 0.538
PAK3 O75914 p21 (RAC1) activated kinase 3 Kinase 0.99 0.569 0.731
PHC1 P78364 polyhomeotic homolog 1 Nucleic acid binding 1.00 0.644 0.692
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577
PTCH1 Q13635 patched 1 1.00 0.398 0.885
RAD21 O60216 RAD21 cohesin complex component 1.00 0.528 0.846
RTTN Q86VV8 rotatin 9.0E-34 0.619 0.654
SATB2 Q9UPW6 SATB homeobox 2 Transcription factor 1.00 0.503 0.769
SETD5 Q9C0A6 SET domain containing 5 1.00 0.560 0.731
SLC9A6 Q92581 solute carrier family 9 member A6 Transporter 1.00 0.516 0.846
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
SMC3 Q9UQE7 structural maintenance of chromosomes 3 1.00 0.535 0.846
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
TCF4 P15884 transcription factor 4 Transcription factor 1.00 0.464 0.846
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
TUBA1A Q71U36 tubulin alpha 1a Cellular structure 0.97 0.597 0.769