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
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
TP63 Q9H3D4 tumor protein p63 Transcription factor 1.00 0.362 0.769 245
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846 242
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846 238
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
ND1 P03886 NADH dehydrogenase, subunit 1 (complex I) Enzyme 0.522 0.769 208
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885 205
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769 198
TRNL1 tRNA 0.534 0.731 194
GLI3 P10071 GLI family zinc finger 3 1.00 0.436 0.846 193
ND5 P03915 NADH dehydrogenase, subunit 5 (complex I) Enzyme 0.531 0.769 190
SUFU Q9UMX1 SUFU negative regulator of hedgehog signaling 1.00 0.493 0.769 189
ND6 P03923 NADH dehydrogenase, subunit 6 (complex I) 0.544 0.808 188