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
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
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
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
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
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
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
BCOR Q6W2J9 BCL6 corepressor 1.00 0.471 0.808 180
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654 179
SDHB P21912 succinate dehydrogenase complex iron sulfur subunit B Enzyme 2.4E-04 0.474 0.846 176
ND4 P03905 NADH dehydrogenase, subunit 4 (complex I) Enzyme 0.546 0.769 175
TRNW tRNA 0.563 0.731 175
PEX1 O43933 peroxisomal biogenesis factor 1 1.1E-14 0.538 0.769 171