Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846 327
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846 325
FLNA P21333 filamin A 1.00 0.419 0.846 298
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923 283
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846 281
PTCH1 Q13635 patched 1 1.00 0.398 0.885 262
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808 236
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769 216
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885 205
BAZ1B Q9UIG0 bromodomain adjacent to zinc finger domain 1B 1.00 0.530 0.731 202
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846 200
BCOR Q6W2J9 BCL6 corepressor 1.00 0.471 0.808 186
TRPS1 Q9UHF7 transcriptional repressor GATA binding 1 1.00 0.537 0.769 174
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808 174
RET P07949 ret proto-oncogene Kinase 1.00 0.392 0.885 170
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808 169
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769 163
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808 160
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846 160
SETBP1 Q9Y6X0 SET binding protein 1 1.00 0.503 0.808 160
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769 158
RAI1 Q7Z5J4 retinoic acid induced 1 Transcription factor 1.00 0.545 0.731 153
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885 153
KAT6B Q8WYB5 lysine acetyltransferase 6B Enzyme 1.00 0.525 0.731 152