Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923 85 55
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923 107 343
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846 125 84
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885 86 26
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885 71 21
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923 153 73
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846 137 1044
GFAP P14136 glial fibrillary acidic protein 1.5E-06 0.421 0.885 5 90
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808 40 115
GLI3 P10071 GLI family zinc finger 3 1.00 0.436 0.846 29 51
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885 47 887
MEFV O15553 MEFV innate immuity regulator, pyrin 1.0E-14 0.440 0.885 23 30
ABCC8 Q09428 ATP binding cassette subfamily C member 8 Transporter 8.0E-24 0.474 0.846 32 164
PMS2 P54278 PMS1 homolog 2, mismatch repair system component Nucleic acid binding 4.5E-27 0.484 0.808 33 229
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846 45 34
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846 93 79
SATB2 Q9UPW6 SATB homeobox 2 Transcription factor 1.00 0.503 0.769 24 31
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769 54 237
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731 83 60
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692 48 32
AKT3 Q9Y243 AKT serine/threonine kinase 3 Kinase 1.00 0.512 0.808 8 4
SMARCA2 P51531 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 Epigenetic regulator 1.00 0.527 0.769 15 21
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731 35 20
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692 29 59