Source: ALL

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
TWIST1 Q15672 twist family bHLH transcription factor 1 Transcription factor 0.34 0.397 0.846 559 31
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846 552 1105
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885 535 65
COX8A P10176 cytochrome c oxidase subunit 8A Enzyme 0.12 0.400 0.846 526 2
PRL P01236 prolactin Signaling 2.9E-07 0.406 0.885 506 3
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846 496 96
PDGFRB P09619 platelet derived growth factor receptor beta Kinase 0.90 0.416 0.846 492 30
DMD P11532 dystrophin 1.00 0.423 0.923 484 345
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885 470 52
SQSTM1 Q13501 sequestosome 1 8.6E-04 0.428 0.885 470 43
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846 462 173
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
WT1 P19544 WT1 transcription factor Nucleic acid binding 1.00 0.422 0.808 446 61
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808 438 123
COX1 P00395 cytochrome c oxidase subunit I Enzyme 0.441 0.885 421 89
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846 419 247
NOTCH3 Q9UM47 notch receptor 3 0.41 0.435 0.808 418 71
TBX1 O43435 T-box transcription factor 1 Transcription factor 0.84 0.433 0.808 417 14
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808 412 38
MEFV O15553 MEFV innate immuity regulator, pyrin 1.0E-14 0.440 0.885 410 72
INS P01308 insulin 0.30 0.445 0.923 405 37
HSPG2 P98160 heparan sulfate proteoglycan 2 Enzyme modulator 1.0E-19 0.438 0.885 405 11
GLI3 P10071 GLI family zinc finger 3 1.00 0.436 0.846 400 73
PTPN22 Q9Y2R2 protein tyrosine phosphatase non-receptor type 22 3.5E-21 0.438 0.846 400 21