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
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769 79 50
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846 68 2953
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577 59 77
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769 54 237
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846 50 138
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692 48 32
HGSNAT Q68CP4 heparan-alpha-glucosaminide N-acetyltransferase 6.3E-08 0.628 0.577 45 38
USP7 Q93009 ubiquitin specific peptidase 7 Enzyme 1.00 0.538 0.808 34 1
ABCC6 O95255 ATP binding cassette subfamily C member 6 Transporter 5.6E-35 0.540 0.654 30 312
GNPTAB Q3T906 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 7.7E-19 0.592 0.731 30 148
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692 29 59
TBR1 Q16650 T-box brain transcription factor 1 Transcription factor 1.00 0.666 0.385 22 17
NAA15 Q9BXJ9 N-alpha-acetyltransferase 15, NatA auxiliary subunit Enzyme 1.00 0.700 0.423 16 10
SDHA P31040 succinate dehydrogenase complex flavoprotein subunit A Enzyme 2.6E-10 0.517 0.731 12 52
CAMK4 Q16566 calcium/calmodulin dependent protein kinase IV Kinase 0.51 0.621 0.654 6 1