Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
PTCH1 Q13635 patched 1 1.00 0.398 0.885 116 144
PALB2 Q86YC2 partner and localizer of BRCA2 3.0E-19 0.485 0.769 48 393
APC P25054 APC regulator of WNT signaling pathway 1.00 0.373 0.962 33 582
C11orf65 Q8NCR3 chromosome 11 open reading frame 65 2.0E-14 0.670 0.462 32 342
MITF O75030 melanocyte inducing transcription factor 0.98 0.499 0.808 25 24
CDKN2A P42771 Q8N726 cyclin dependent kinase inhibitor 2A 0.39 0.300 0.885 22 83
MRE11 P49959 MRE11 homolog, double strand break repair nuclease 1.3E-12 0.527 0.808 21 61
HFE Q30201 homeostatic iron regulator 2.6E-08 0.436 0.846 13 13
POLE Q07864 DNA polymerase epsilon, catalytic subunit 8.0E-27 0.526 0.731 10 9
CDH1 P12830 cadherin 1 0.15 0.401 0.808 10 145
SDHC Q99643 succinate dehydrogenase complex subunit C 2.0E-04 0.517 0.846 9 21
FLCN Q8NFG4 folliculin 0.79 0.537 0.885 7 118
BARD1 Q99728 BRCA1 associated RING domain 1 1.4E-24 0.597 0.538 7 145
HOXB13 Q92826 homeobox B13 3.7E-08 0.573 0.462 6 1
FANCC Q00597 FA complementation group C 2.8E-13 0.507 0.808 6 81
RAD51C O43502 RAD51 paralog C 6.2E-14 0.533 0.692 5 88
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
TMEM127 O75204 transmembrane protein 127 1.3E-02 0.638 0.615 4 25
SMARCE1 Q969G3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 1.00 0.572 0.769 4 13
RAD50 Q92878 RAD50 double strand break repair protein 3.4E-27 0.556 0.808 3 166
POLD1 P28340 DNA polymerase delta 1, catalytic subunit 2.4E-06 0.507 0.769 3 3
SDHAF2 Q9NX18 succinate dehydrogenase complex assembly factor 2 2.8E-06 0.604 0.692 3 7
ABRAXAS1 Q6UWZ7 abraxas 1, BRCA1 A complex subunit 5.1E-07 0.760 0.269 3 3