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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00020 | Colorectal cancer | Colorectal cancer (CRC) is the second largest cause of cancer-related deaths in Western countries. CRC arises from the colorectal epithelium as a result of the accumulation of genetic alterations in defined ... | Cancer | hsa05210 Colorectal cancer |
(HNPCC) MLH1 [HSA:4292] [KO:K08734] (HNPCC) MLH3 [HSA:27030] [KO:K08739] (HNPCC) MSH2 [HSA:4436] [KO:K08735] (HNPCC) MSH6 [HSA:2956] [KO:K08737] (HNPCC) TGFBR2 [HSA:7048] [KO:K04388] (FAP) APC [HSA:324] [KO:K02085] (FAP) MSH3 [HSA:4437] [KO:K08736] (PPAP) POLD1 [HSA:5424] [KO:K02327] (PPAP) POLE [HSA:5426] [KO:K02324] DCC [HSA:1630] [KO:K06765] KRAS [HSA:3845] [KO:K07827] GALNT12 [HSA:79695] [KO:K00710] SMAD7 [HSA:4092] [KO:K19631] SMAD4 [HSA:4089] [KO:K04501] SMAD2 [HSA:4087] [KO:K04500] BAX [HSA:581] [KO:K02159] AXIN2 [HSA:8313] [KO:K04385] BRAF [HSA:673] [KO:K04365] CCND1 [HSA:595] [KO:K04503] CHEK2 [HSA:11200] [KO:K06641] CTNNB1 [HSA:1499] [KO:K02105] FLCN [HSA:201163] [KO:K09594] PIK3CA [HSA:5290] [KO:K00922] TP53 [HSA:7157] [KO:K04451] BUB1 [HSA:699] [KO:K02178] BUB1B [HSA:701] [KO:K06637] AURKA [HSA:6790] [KO:K11481] EGF (overexpression) [HSA:1950] [KO:K04357] TGFA (overexpression) [HSA:7039] [KO:K08774] EREG (overexpression) [HSA:2069] [KO:K09784] AREG (overexpression) [HSA:374] [KO:K09782] |
| H00036 | Osteosarcoma | Osteosarcoma is the most common type of primary bone cancer. Approximately 900 new cases of osteosarcoma are diagnosed each year in the United States. The presentation of this disease is bimodal, with ... | Cancer |
MDM2 (amplification) [HSA:4193] [KO:K06643] TSPAN31 (amplification) [HSA:6302] [KO:K17356] MYC (amplification) [HSA:4609] [KO:K04377] TP53 [HSA:7157] [KO:K04451] RB1 [HSA:5925] [KO:K06618] CDKN2A [HSA:1029] [KO:K06621] CDKN2B [HSA:1030] [KO:K04685] CHEK2 [HSA:11200] [KO:K06641] |
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| H00881 | Li-Fraumeni syndrome | ... germ line mutations in the tumor suppressor gene TP53 (p53). In a subset of non-p53 patients with LFS, CHEK2 has been identified as another predisposing locus. LFS is diagnosed on the basis of the confirmed ... | Neoplasm |
(LFS) TP53 [HSA:7157] [KO:K04451] (LFS2) CHEK2 [HSA:11200] [KO:K06641] |
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| H02624 | Tumor predisposition syndrome | Tumor predisposition syndrome (TPDS) is conferring an increased risk of hereditary, early-onset cancers; predominantly uveal melanoma, malignant mesothelioma, renal cell carcinoma, and BAP1-inactivated ... | Cancer |
(TPDS1) BAP1 [HSA:8314] [KO:K08588] (TPDS2) MBD4 [HSA:8930] [KO:K10801] (TPDS3) POT1 [HSA:25913] [KO:K11109] (TPDS4) CHEK2 [HSA:11200] [KO:K06641] |
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