Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885 70 52
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846 47 14
APC P25054 APC regulator of WNT signaling pathway 1.00 0.373 0.962 33 582
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846 28 41
DCC P43146 DCC netrin 1 receptor 0.99 0.471 0.808 9 18
BCL10 O95999 BCL10 immune signaling adaptor 0.34 0.491 0.769 9 13
CYTB P00156 cytochrome b 0.529 0.808 8 74
FLCN Q8NFG4 folliculin 0.79 0.537 0.885 7 118
FANCC Q00597 FA complementation group C 2.8E-13 0.507 0.808 6 81
EP300-AS1 EP300 antisense RNA 1 0.839 0.231 5 12
DLC1 Q96QB1 DLC1 Rho GTPase activating protein 1.00 0.529 0.731 5 3
LINC01917 long intergenic non-protein coding RNA 1917 0.931 0.115 3 2
AXIN2 Q9Y2T1 axin 2 0.57 0.507 0.692 3 16
FANCE Q9HB96 FA complementation group E 1.5E-06 0.553 0.808 2 4
FSBP O95073 Q9Y620 fibrinogen silencer binding protein 7.1E-04 0.821 0.231 1 1
RAD54B O95073 Q9Y620 RAD54 homolog B 8.1E-13 0.659 0.462 1 1
MCC P23508 MCC regulator of WNT signaling pathway 4.7E-16 0.568 0.731 1 2
REV3L O60673 REV3 like, DNA directed polymerase zeta catalytic subunit 1.00 0.588 0.654 1 1
MUTYH Q9UIF7 mutY DNA glycosylase Enzyme 1.3E-18 0.521 0.769 16 130
BRIP1 Q9BX63 BRCA1 interacting protein C-terminal helicase 1 Enzyme 6.2E-17 0.507 0.731 15 220
COX1 P00395 cytochrome c oxidase subunit I Enzyme 0.441 0.885 11 81
NFE2L2 Q16236 nuclear factor, erythroid 2 like 2 Enzyme 3.6E-03 0.357 0.885 10 8
COX2 P00403 cytochrome c oxidase subunit II Enzyme 0.352 0.962 6 74
ND4L P03901 NADH dehydrogenase, subunit 4L (complex I) Enzyme 0.805 0.308 2 37