Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
LMNA P02545 lamin A/C 1.00 0.384 0.885 468
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846 325
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846 281
ELN P15502 elastin 2.1E-14 0.415 0.885 257
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808 236
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808 225
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808 218
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731 212
SUFU Q9UMX1 SUFU negative regulator of hedgehog signaling 1.00 0.493 0.769 209
PEX1 O43933 peroxisomal biogenesis factor 1 1.1E-14 0.538 0.769 209
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731 209
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885 205
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846 200
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615 194
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885 191
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808 187
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654 187
APC P25054 APC regulator of WNT signaling pathway 1.00 0.373 0.962 187
BCOR Q6W2J9 BCL6 corepressor 1.00 0.471 0.808 186
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769 182
TRNW tRNA 0.563 0.731 181
TRNS1 tRNA 0.555 0.808 176
MYH7 P12883 myosin heavy chain 7 4.2E-16 0.516 0.692 176
FIG4 Q92562 FIG4 phosphoinositide 5-phosphatase 2.3E-34 0.551 0.731 175