Source: HPO

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
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
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
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
ERCC2 P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 7.1E-20 0.420 0.846 210
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
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885 205
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
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
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885 176
BAZ1B Q9UIG0 bromodomain adjacent to zinc finger domain 1B 1.00 0.530 0.731 175
CLIP2 Q9UDT6 CAP-Gly domain containing linker protein 2 Cellular structure 1.00 0.529 0.808 175
GTF2I P78347 general transcription factor IIi 1.00 0.500 0.808 175