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
RET P07949 ret proto-oncogene Kinase 1.00 0.392 0.885 607 162
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846 552 1105
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846 496 96
SMAD3 P84022 SMAD family member 3 Transcription factor 0.80 0.415 0.923 470 95
TGFBR1 P36897 transforming growth factor beta receptor 1 Kinase 0.85 0.451 0.885 347 47
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769 340 21
CBS P0DN79 P35520 cystathionine beta-synthase Enzyme 3.1E-05 0.465 0.885 295 142
SMS P52788 spermine synthase 0.97 0.491 0.846 263 9
SKI P12755 SKI proto-oncogene 1.00 0.503 0.808 255 22
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769 247 271
NSD2 O96028 nuclear receptor binding SET domain protein 2 Epigenetic regulator 1.00 0.507 0.769 224 4
FBN2 P35556 fibrillin 2 Calcium-binding protein 1.00 0.505 0.808 211 42
HPGD P15428 15-hydroxyprostaglandin dehydrogenase 1.4E-05 0.516 0.731 194 9
LETM1 O95202 leucine zipper and EF-hand containing transmembrane protein 1 Transporter 1.2E-06 0.545 0.692 188 0
DDC P20711 dopa decarboxylase 3.8E-08 0.535 0.769 164 68
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577 149 29
ATP6V1A P38606 ATPase H+ transporting V1 subunit A Transporter 0.87 0.579 0.615 147 7
DYNC2H1 Q8NCM8 dynein cytoplasmic 2 heavy chain 1 Enzyme 1.1E-44 0.555 0.731 136 159
PLOD1 Q02809 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 Enzyme 1.5E-15 0.579 0.731 123 19
ATP6V1E1 P36543 ATPase H+ transporting V1 subunit E1 Transporter 0.53 0.610 0.769 105 2
ZNF469 Q96JG9 zinc finger protein 469 0.72 0.584 0.769 101 27
UPF3B Q9BZI7 UPF3B regulator of nonsense mediated mRNA decay 0.98 0.619 0.615 99 8