Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
NBN O60934 nibrin Nucleic acid binding 2.2E-16 0.467 0.808 15 167
VHL P40337 von Hippel-Lindau tumor suppressor Enzyme 8.0E-02 0.443 0.846 14 186
TSC2 P49815 TSC complex subunit 2 Enzyme modulator 1.00 0.439 0.808 13 244
HFE Q30201 homeostatic iron regulator 2.6E-08 0.436 0.846 13 13
SDHB P21912 succinate dehydrogenase complex iron sulfur subunit B Enzyme 2.4E-04 0.474 0.846 12 127
SDHA P31040 succinate dehydrogenase complex flavoprotein subunit A Enzyme 2.6E-10 0.517 0.731 12 52
RB1 P06400 RB transcriptional corepressor 1 Nucleic acid binding 1.00 0.444 0.885 11 224
CDH1 P12830 cadherin 1 0.15 0.401 0.808 10 145
SDHD O14521 succinate dehydrogenase complex subunit D Transporter 0.34 0.472 0.885 10 60
POLE Q07864 DNA polymerase epsilon, catalytic subunit 8.0E-27 0.526 0.731 10 9
BAP1 Q92560 BRCA1 associated protein 1 Enzyme 0.99 0.454 0.731 9 72
SMARCA4 P51532 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 Epigenetic regulator 1.00 0.450 0.885 9 50
EXT2 Q93063 exostosin glycosyltransferase 2 Enzyme 1.3E-09 0.576 0.654 9 26
SDHC Q99643 succinate dehydrogenase complex subunit C 2.0E-04 0.517 0.846 9 21
BARD1 Q99728 BRCA1 associated RING domain 1 1.4E-24 0.597 0.538 7 145
FH P07954 fumarate hydratase Enzyme 8.8E-02 0.489 0.846 7 136
FLCN Q8NFG4 folliculin 0.79 0.537 0.885 7 118
CDK4 P11802 cyclin dependent kinase 4 Kinase 6.3E-02 0.412 0.808 7 2
FANCC Q00597 FA complementation group C 2.8E-13 0.507 0.808 6 81
MPRIP Q6WCQ1 myosin phosphatase Rho interacting protein Enzyme modulator 0.98 0.556 0.885 6 50
NTHL1 P78549 nth like DNA glycosylase 1 Enzyme 5.7E-10 0.623 0.615 6 6
HOXB13 Q92826 homeobox B13 3.7E-08 0.573 0.462 6 1
DICER1 Q9UPY3 dicer 1, ribonuclease III Enzyme 1.00 0.446 0.846 5 185
BMPR1A P36894 bone morphogenetic protein receptor type 1A Kinase 0.90 0.522 0.731 5 92