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
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808 301
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
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
SDHD O14521 succinate dehydrogenase complex subunit D Transporter 0.34 0.472 0.885 212
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
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
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
TRNL1 tRNA 0.534 0.731 194
ND5 P03915 NADH dehydrogenase, subunit 5 (complex I) Enzyme 0.531 0.769 190
ND6 P03923 NADH dehydrogenase, subunit 6 (complex I) 0.544 0.808 188
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
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654 179
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731 177
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615 177
ND4 P03905 NADH dehydrogenase, subunit 4 (complex I) Enzyme 0.546 0.769 175