Source: INFERRED

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
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846 281
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
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
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846 158
KAT6B Q8WYB5 lysine acetyltransferase 6B Enzyme 1.00 0.525 0.731 152
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692 151
RERE Q9P2R6 arginine-glutamic acid dipeptide repeats 1.00 0.526 0.846 148
SMC3 Q9UQE7 structural maintenance of chromosomes 3 1.00 0.535 0.846 134
FAT4 Q6V0I7 FAT atypical cadherin 4 1.00 0.539 0.808 132
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808 129
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808 122
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 0.808 115
DMD P11532 dystrophin 1.00 0.423 0.923 114