Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
TGFB1 P01137 transforming growth factor beta 1 Signaling 3.7E-02 0.287 0.962 1558 50
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885 1368 68
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923 1349 384
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885 960 48
CXCR4 P61073 C-X-C motif chemokine receptor 4 G-protein coupled receptor 1.8E-02 0.362 0.923 739 23
HLA-B P01889 major histocompatibility complex, class I, B 3.9E-05 0.379 0.885 706 308
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846 664 387
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885 535 65
HTC2 hypertrichosis 2 (generalized, congenital) 0.392 0.808 511 0
CALR P27797 calreticulin Calcium-binding protein 0.89 0.413 0.923 487 9
MAPT P10636 microtubule associated protein tau 6.0E-03 0.446 0.923 469 292
SMARCB1 Q12824 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 Nucleic acid binding 1.00 0.434 0.846 448 30
TBX1 O43435 T-box transcription factor 1 Transcription factor 0.84 0.433 0.808 417 14
STS P08842 steroid sulfatase Enzyme 0.81 0.431 0.846 382 16
VHL P40337 von Hippel-Lindau tumor suppressor Enzyme 8.0E-02 0.443 0.846 372 215
TET2 Q6N021 tet methylcytosine dioxygenase 2 4.3E-54 0.458 0.808 362 47
PRRT2 Q7Z6L0 proline rich transmembrane protein 2 0.58 0.448 0.808 353 29
FMR1 Q06787 FMRP translational regulator 1 Nucleic acid binding 0.65 0.473 0.769 346 10
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846 341 22
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769 340 21
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808 319 157
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808 317 64
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846 315 37
BCOR Q6W2J9 BCL6 corepressor 1.00 0.471 0.808 314 21