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
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462 97 11
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
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885 78 577
TTN-AS1 TTN antisense RNA 1 0.599 0.577 78 567
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731 69 38
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
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
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808 52 22
PURA Q00577 purine rich element binding protein A Nucleic acid binding 0.94 0.644 0.500 47 36
SCN4A P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 1.3E-02 0.554 0.731 44 43
SCN2A Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 1.00 0.518 0.731 40 74
TRIP11 Q15643 thyroid hormone receptor interactor 11 1.7E-12 0.595 0.654 40 19
LZTR1 Q8N653 leucine zipper like transcription regulator 1 1.0E-92 0.547 0.808 38 24
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808 34 121
USP7 Q93009 ubiquitin specific peptidase 7 Enzyme 1.00 0.538 0.808 34 1
COG4 Q9H9E3 component of oligomeric golgi complex 4 4.0E-09 0.631 0.615 32 7
PIEZO2 Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 8.1E-07 0.529 0.769 30 26
ANTXR2 P58335 ANTXR cell adhesion molecule 2 Receptor 8.7E-02 0.568 0.808 30 12
CAMK2B Q13554 calcium/calmodulin dependent protein kinase II beta Kinase 0.74 0.626 0.538 28 7