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
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923 337
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885 303
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808 301
FLNA P21333 filamin A 1.00 0.419 0.846 298
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846 264
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846 261
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923 255
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846 254
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846 242
TBX1 O43435 T-box transcription factor 1 Transcription factor 0.84 0.433 0.808 199
SUFU Q9UMX1 SUFU negative regulator of hedgehog signaling 1.00 0.493 0.769 189
AKT1 P31749 AKT serine/threonine kinase 1 Kinase 0.98 0.311 0.962 187
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808 186
ERCC4 Q92889 ERCC excision repair 4, endonuclease catalytic subunit Enzyme 1.4E-12 0.468 0.846 185
ZMPSTE24 O75844 zinc metallopeptidase STE24 Enzyme 8.9E-16 0.517 0.731 184
FLNB O75369 filamin B 6.1E-10 0.458 0.923 173
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808 167
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808 165
SMARCB1 Q12824 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 Nucleic acid binding 1.00 0.434 0.846 163
FIG4 Q92562 FIG4 phosphoinositide 5-phosphatase 2.3E-34 0.551 0.731 162
SKI P12755 SKI proto-oncogene 1.00 0.503 0.808 159
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846 158
APC P25054 APC regulator of WNT signaling pathway 1.00 0.373 0.962 155