Source: HPO

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
FLNA P21333 filamin A 1.00 0.419 0.846 298
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846 261
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846 242
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808 219
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846 214
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923 209
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769 198
BCOR Q6W2J9 BCL6 corepressor 1.00 0.471 0.808 180
BAZ1B Q9UIG0 bromodomain adjacent to zinc finger domain 1B 1.00 0.530 0.731 175
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808 165
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808 157
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885 154
PTCH1 Q13635 patched 1 1.00 0.398 0.885 143
COL3A1 P02461 collagen type III alpha 1 chain 1.00 0.477 0.808 142
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808 141
RET P07949 ret proto-oncogene Kinase 1.00 0.392 0.885 141
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846 135
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846 135
KAT6B Q8WYB5 lysine acetyltransferase 6B Enzyme 1.00 0.525 0.731 134
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692 133
FAT4 Q6V0I7 FAT atypical cadherin 4 1.00 0.539 0.808 130
USP9X Q93008 ubiquitin specific peptidase 9 X-linked 1.00 0.502 0.846 130
JMJD1C Q15652 jumonji domain containing 1C 1.00 0.517 0.769 128
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846 128