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
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923 255
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
AKT1 P31749 AKT serine/threonine kinase 1 Kinase 0.98 0.311 0.962 187
SDHB P21912 succinate dehydrogenase complex iron sulfur subunit B Enzyme 2.4E-04 0.474 0.846 176
SMAD4 Q13485 SMAD family member 4 Transcription factor 1.00 0.401 0.808 173
APC P25054 APC regulator of WNT signaling pathway 1.00 0.373 0.962 155
BRCA1 P38398 BRCA1 DNA repair associated Enzyme 9.2E-29 0.367 0.923 147
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846 140
PALB2 Q86YC2 partner and localizer of BRCA2 3.0E-19 0.485 0.769 134
TP53 P04637 tumor protein p53 Transcription factor 0.53 0.236 0.962 131
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885 128
SDHC Q99643 succinate dehydrogenase complex subunit C 2.0E-04 0.517 0.846 126
RAD51 Q06609 RAD51 recombinase 2.7E-02 0.447 0.846 117
TWIST1 Q15672 twist family bHLH transcription factor 1 Transcription factor 0.34 0.397 0.846 117
RAD51C O43502 RAD51 paralog C 6.2E-14 0.533 0.692 116
BRIP1 Q9BX63 BRCA1 interacting protein C-terminal helicase 1 Enzyme 6.2E-17 0.507 0.731 106
MLH1 P40692 mutL homolog 1 Nucleic acid binding 3.4E-05 0.399 0.808 81
MSH2 P43246 mutS homolog 2 Nucleic acid binding 0.90 0.406 0.808 81
NBN O60934 nibrin Nucleic acid binding 2.2E-16 0.467 0.808 79
MSH6 P52701 mutS homolog 6 Nucleic acid binding 3.7E-05 0.462 0.731 77
ATM Q13315 ATM serine/threonine kinase Kinase 5.6E-47 0.374 0.885 67