Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
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
SOX9 P48436 SRY-box transcription factor 9 1.00 0.419 0.846 466 25
INSR P06213 insulin receptor Kinase 3.6E-05 0.432 0.846 452 109
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
BMP2 P12643 bone morphogenetic protein 2 Signaling 0.99 0.432 0.846 428 12
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808 422 56
JAG1 P78504 jagged canonical Notch ligand 1 1.00 0.429 0.808 420 63
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846 419 247
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808 412 38
RUNX2 Q13950 RUNX family transcription factor 2 Transcription factor 0.95 0.437 0.846 405 37
GLI3 P10071 GLI family zinc finger 3 1.00 0.436 0.846 400 73
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846 399 37
MAP2K1 Q02750 mitogen-activated protein kinase kinase 1 Kinase 0.90 0.439 0.846 389 43
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885 380 935
WNT5A P41221 Wnt family member 5A Signaling 0.99 0.443 0.808 375 11
FLNB O75369 filamin B 6.1E-10 0.458 0.923 374 51
GLI2 P10070 GLI family zinc finger 2 0.97 0.446 0.846 351 37
SMARCA4 P51532 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 Epigenetic regulator 1.00 0.450 0.885 347 73
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
COL18A1 P39060 collagen type XVIII alpha 1 chain 1.7E-10 0.449 0.808 323 41
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808 319 157
DNMT3B Q9UBC3 DNA methyltransferase 3 beta 0.20 0.453 0.846 315 38