Source: HPO

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
LMNA P02545 lamin A/C 1.00 0.384 0.885 425
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
ELN P15502 elastin 2.1E-14 0.415 0.885 248
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
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808 213
PRKAR1A P10644 protein kinase cAMP-dependent type I regulatory subunit alpha 1.00 0.401 0.846 205
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808 202
TRNL1 tRNA 0.534 0.731 194
GLI3 P10071 GLI family zinc finger 3 1.00 0.436 0.846 193
VCP P55072 valosin containing protein 1.00 0.469 0.923 193
SUFU Q9UMX1 SUFU negative regulator of hedgehog signaling 1.00 0.493 0.769 189
ND6 P03923 NADH dehydrogenase, subunit 6 (complex I) 0.544 0.808 188
BCOR Q6W2J9 BCL6 corepressor 1.00 0.471 0.808 180
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654 179
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615 177
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731 177
GTF2I P78347 general transcription factor IIi 1.00 0.500 0.808 175
TRNW tRNA 0.563 0.731 175
BAZ1B Q9UIG0 bromodomain adjacent to zinc finger domain 1B 1.00 0.530 0.731 175
GTF2IRD1 Q9UHL9 GTF2I repeat domain containing 1 0.90 0.522 0.769 175
TBL2 Q9Y4P3 transducin beta like 2 1.8E-04 0.538 0.731 175
FLNB O75369 filamin B 6.1E-10 0.458 0.923 173