Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769 79 50
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577 77 22
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769 73 10
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654 73 2
NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577 69 37
UBA5 Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 2.5E-04 0.582 0.731 62 13
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769 61 35
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731 58 15
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846 36 7
GNB1 P62873 G protein subunit beta 1 Enzyme 1.00 0.617 0.731 34 11
USP7 Q93009 ubiquitin specific peptidase 7 Enzyme 1.00 0.538 0.808 34 1
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769 25 18
GNAO1 P09471 G protein subunit alpha o1 Enzyme modulator 0.99 0.523 0.808 20 16
GRIN1 Q05586 glutamate ionotropic receptor NMDA type subunit 1 Ion channel 0.98 0.561 0.692 13 18
SNHG14 small nucleolar RNA host gene 14 0.656 0.577 11 125
UBE3A Q05086 ubiquitin protein ligase E3A 1.00 0.561 0.692 11 125