Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846 150 336
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923 107 343
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692 100 7
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462 97 11
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846 93 79
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885 86 26
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769 79 50
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808 76 33
PHIP Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 1.00 0.595 0.769 76 18
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885 70 52
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731 69 38
NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577 69 37
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808 63 59
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846 62 116
UBA5 Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 2.5E-04 0.582 0.731 62 13
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885 61 61
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769 61 35
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577 59 77
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769 57 70
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769 54 237
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769 54 33
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808 52 22
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346 50 425
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692 48 32