Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923 1349 384
AKT1 P31749 AKT serine/threonine kinase 1 Kinase 0.98 0.311 0.962 1250 33
APC P25054 APC regulator of WNT signaling pathway 1.00 0.373 0.962 703 681
NOTCH1 P46531 notch receptor 1 1.00 0.369 0.885 693 64
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846 664 387
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846 654 55
FLNA P21333 filamin A 1.00 0.419 0.846 571 85
RUNX2 Q13950 RUNX family transcription factor 2 Transcription factor 0.95 0.437 0.846 405 37
FLNB O75369 filamin B 6.1E-10 0.458 0.923 374 51
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846 266 96
RECQL4 O94761 RecQ like helicase 4 Enzyme 3.3E-35 0.496 0.808 249 73
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692 224 221
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692 224 51
DLL4 Q9NR61 delta like canonical Notch ligand 4 1.00 0.494 0.769 219 15
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692 213 62
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808 199 15
SLC26A2 P50443 solute carrier family 26 member 2 Transporter 7.5E-07 0.553 0.692 198 78
SMARCA2 P51531 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 Epigenetic regulator 1.00 0.527 0.769 189 41
TBX3 O15119 T-box transcription factor 3 Transcription factor 0.99 0.525 0.769 179 12
ABCC9 O60706 ATP binding cassette subfamily C member 9 Transporter 9.4E-09 0.552 0.692 175 27
TBX5 Q99593 T-box transcription factor 5 Transcription factor 1.00 0.528 0.769 170 89
RBPJ Q06330 recombination signal binding protein for immunoglobulin kappa J region Nucleic acid binding 1.00 0.518 0.808 161 13
LRP4 O75096 LDL receptor related protein 4 1.4E-06 0.568 0.692 151 23
SLC25A24 Q6NUK1 solute carrier family 25 member 24 Transporter 3.4E-12 0.575 0.731 141 5