Disease Term Disease ID Gene Symbol References
Hereditary non-polyposis colorectal cancer syndrome C1112155 ATM 28135145, 27978560, 24512911, 23154512, 25368522, 28093285
BARD1 11498787, 27197561, 22814582, 25058500
CDH1 10072428, 11968083, 10051639, 17221870, 9537325, 26742007
CDKN1B 25058500, 9823898, 17631145, 12086850, 9926925, 9736017, 15584024, 17954563
CTNNA1
EPHX1 25058500, 11758809, 7516776
MSH6 10545954, 18790734, 9354786, 11245474, 9390556, 11709755, 7604265, 7604264, 10521294, 25318681
KRAS 19731079
EPCAM 23938213, 21769135
MLH1 26149658, 23100212
MSH2 23255516, 26076155, 8261515, 8706033, 27329137, 17101317, 22234272
MSH3 8942985, 10706084, 23228367, 8805365, 21128252, 27476653
PIK3CA 19731079
PMS1
PMS2 8072530, 16619239, 18602922, 15887124, 22494821, 25512458, 15872200, 20624957, 16873062, 11793442
PTPRJ 28316102
RPS20 27713038, 24941021
SMARCA4 25058500, 27852072
TGFBR2
XRCC4 25058500
EXO1 12517792, 17452984, 10856833, 12414623, 24484585, 11429708
CHEK2 19876921, 18996005, 12690581, 28135145, 27900359, 15829956, 24976383, 18679694, 18676774, 15818573, 16478982, 21807500
FAN1 20603016, 20603073, 26797144, 26052075
MLH3 19156873, 17203173, 19483466, 12702580, 16204034, 18521850, 16322221
SEMA4A 25307848, 27476653
NFKBIZ 25058500
PALB2 27329137, 28818916, 26681312, 27978560, 23715323, 29478780, 25980754
Hereditary nonpolyposis colorectal carcinoma C4024989 AKT1
APC
BUB1
BUB1B
CTNNB1
DCC
EP300
FGFR3
MSH6
EPCAM
NRAS
PIK3CA
PMS2
SRC
TGFBR2
TP53
AXIN2
DLC1
MLH3
FBXO11
FLCN