Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
MRPS18C Q9Y3D5 mitochondrial ribosomal protein S18C Nucleic acid binding 8.8E-05 0.890 0.154 2 2
ABRAXAS1 Q6UWZ7 abraxas 1, BRCA1 A complex subunit 5.1E-07 0.760 0.269 3 3
RAD51D O75771 RAD51 paralog D 1.1E-09 0.674 0.385 5 70
TH2LCRR T helper type 2 locus control region associated RNA 0.751 0.385 4 24
C11orf65 Q8NCR3 chromosome 11 open reading frame 65 2.0E-14 0.670 0.462 32 342
HOXB13 Q92826 homeobox B13 3.7E-08 0.573 0.462 6 1
TOE1 Q96GM8 target of EGR1, exonuclease Nucleic acid binding 6.0E-16 0.682 0.462 2 3
BARD1 Q99728 BRCA1 associated RING domain 1 1.4E-24 0.597 0.538 7 145
CTNNA1 P35221 catenin alpha 1 Cellular structure 0.97 0.584 0.538 2 4
NTHL1 P78549 nth like DNA glycosylase 1 Enzyme 5.7E-10 0.623 0.615 6 6
TMEM127 O75204 transmembrane protein 127 1.3E-02 0.638 0.615 4 25
RECQL P46063 RecQ like helicase Enzyme 1.5E-20 0.615 0.615 1 4
EXT2 Q93063 exostosin glycosyltransferase 2 Enzyme 1.3E-09 0.576 0.654 9 26
FBXO11 Q86XK2 F-box protein 11 Enzyme 1.00 0.604 0.692 18 561
RAD51C O43502 RAD51 paralog C 6.2E-14 0.533 0.692 5 88
SDHAF2 Q9NX18 succinate dehydrogenase complex assembly factor 2 2.8E-06 0.604 0.692 3 7
MSH6 P52701 mutS homolog 6 Nucleic acid binding 3.7E-05 0.462 0.731 18 577
BRIP1 Q9BX63 BRCA1 interacting protein C-terminal helicase 1 Enzyme 6.2E-17 0.507 0.731 15 220
SDHA P31040 succinate dehydrogenase complex flavoprotein subunit A Enzyme 2.6E-10 0.517 0.731 12 52
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
BMPR1A P36894 bone morphogenetic protein receptor type 1A Kinase 0.90 0.522 0.731 5 92
XRCC2 O43543 X-ray repair cross complementing 2 4.0E-07 0.512 0.731 2 3
PALB2 Q86YC2 partner and localizer of BRCA2 3.0E-19 0.485 0.769 48 393