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
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885 330
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
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846 307
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846 281
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846 279
PTCH1 Q13635 patched 1 1.00 0.398 0.885 262
ELN P15502 elastin 2.1E-14 0.415 0.885 257
HLA-B P01889 major histocompatibility complex, class I, B 3.9E-05 0.379 0.885 239
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885 232
ATXN2 Q99700 ataxin 2 Nucleic acid binding 0.85 0.482 0.808 221
GLI3 P10071 GLI family zinc finger 3 1.00 0.436 0.846 218
SUFU Q9UMX1 SUFU negative regulator of hedgehog signaling 1.00 0.493 0.769 209
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885 205
POLR3A O14802 RNA polymerase III subunit A Enzyme 1.3E-23 0.538 0.769 198
AKT1 P31749 AKT serine/threonine kinase 1 Kinase 0.98 0.311 0.962 191
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885 191
APC P25054 APC regulator of WNT signaling pathway 1.00 0.373 0.962 187
FLNB O75369 filamin B 6.1E-10 0.458 0.923 187
GTF2IRD1 Q9UHL9 GTF2I repeat domain containing 1 0.90 0.522 0.769 180
TRPS1 Q9UHF7 transcriptional repressor GATA binding 1 1.00 0.537 0.769 174
GDF5 P43026 growth differentiation factor 5 Signaling 0.67 0.511 0.692 171
SKI P12755 SKI proto-oncogene 1.00 0.503 0.808 171