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
ELN P15502 elastin 2.1E-14 0.415 0.885 248
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846 242
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
SDHD O14521 succinate dehydrogenase complex subunit D Transporter 0.34 0.472 0.885 212
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923 209
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846 206
PRKAR1A P10644 protein kinase cAMP-dependent type I regulatory subunit alpha 1.00 0.401 0.846 205
TBX1 O43435 T-box transcription factor 1 Transcription factor 0.84 0.433 0.808 199
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769 198
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
POLR3A O14802 RNA polymerase III subunit A Enzyme 1.3E-23 0.538 0.769 186
ERCC4 Q92889 ERCC excision repair 4, endonuclease catalytic subunit Enzyme 1.4E-12 0.468 0.846 185