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Entry | Name | Description | Category | Pathway | Gene |
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H00017 | Esophageal cancer | Esophageal cancer represents the 9th leading cancer in the world and is associated with a 5-year survival rate under 25%. The two main forms are squamous-cell carcinoma (ESCC) and adenocarcinoma (EAC) ... | Cancer |
EGFR (overexpression) [HSA:1956] [KO:K04361] PTGS2 (overexpression) [HSA:5743] [KO:K11987] NOS2 (increased expression) [HSA:4843] [KO:K13241] FAS (increased expression) [HSA:355] [KO:K04390] CCND1 (amplification) [HSA:595] [KO:K04503] TP53 [HSA:7157] [KO:K04451] CDKN2A [HSA:1029] [KO:K06621] RB1 [HSA:5925] [KO:K06618] APC [HSA:324] [KO:K02085] DCC [HSA:1630] [KO:K06765] LZTS1 [HSA:11178] [KO:K26460] RNF6 [HSA:6049] [KO:K22753] TGFBR2 [HSA:7048] [KO:K04388] WWOX [HSA:51741] [KO:K19329] |
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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] |
H00048 |
Hepatocellular carcinoma Liver cancer |
Hepatocellular carcinoma (HCC) is a major type of primary liver cancer and one of the rare human neoplasms etiologically linked to viral factors. It has been shown that, after HBV/HCV infection and alcohol ... | Cancer | hsa05225 Hepatocellular carcinoma |
TGFA (overexpression) [HSA:7039] [KO:K08774] IGF2 (overexpression) [HSA:3481] [KO:K13769] IGF1R (overexpression) [HSA:3480] [KO:K05087] TERT (overexpression) [HSA:7015] [KO:K11126] FZD7 (overexpression) [HSA:8324] [KO:K02432] HGF (overexpression) [HSA:3082] [KO:K05460] MET (mutation, overexpression) [HSA:4233] [KO:K05099] MYC (amplification) [HSA:4609] [KO:K04377] RB1 (loss) [HSA:5925] [KO:K06618] CDKN2A (deletion) [HSA:1029] [KO:K06621] TGFBR2 (reduced expression) [HSA:7048] [KO:K04388] TP53 [HSA:7157] [KO:K04451] PTEN [HSA:5728] [KO:K01110] CTNNB1 [HSA:1499] [KO:K02105] AXIN1 [HSA:8312] [KO:K02157] KEAP1 [HSA:9817] [KO:K10456] NFE2L2 [HSA:4780] [KO:K05638] PIK3CA [HSA:5290] [KO:K00922] ARID1A [HSA:8289] [KO:K11653] ARID2 [HSA:196528] [KO:K11765] CASP8 [HSA:841] [KO:K04398] IGF2R [HSA:3482] [KO:K06564] |
H00800 | Loeys-Dietz syndrome | Loeys-Dietz syndrome (LDS) is an autosomal dominant disorder characterized by arterial aneurysms and dissections, pectus excavatum, craniosynostosis, cleft palate, congenital heart disease, and thin, translucent ... | Congenital malformation |
(LDS1A/2A) TGFBR1 [HSA:7046] [KO:K04674] (LDS1B/2B) TGFBR2 [HSA:7048] [KO:K04388] (LDS3) SMAD3 [HSA:4088] [KO:K23605] (LDS4) TGFB2 [HSA:7042] [KO:K13376] (LDS5) TGFB3 [HSA:7043] [KO:K13377] (LDS6) SMAD2 [HSA:4087] [KO:K04500] |
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H00801 |
Familial thoracic aortic aneurysm and dissection Aortic aneurysm familial thoracic type (AAT) |
... Loeys-Dietz syndrome, or vascular Ehlers-Danlos syndrome, and presence of a positive family history of TAAD. TGFBR2, TGFBR1, MYH11, ACTA2, and two loci on other chromosomes, AAT1 and AAT2, are associated with familial ... | Cardiovascular disease |
(AAT3) TGFBR2 [HSA:7048] [KO:K04388] (AAT4) MYH11 [HSA:4629] [KO:K10352] (AAT5) TGFBR1 [HSA:7046] [KO:K04674] (AAT6) ACTA2 [HSA:59] [KO:K12313] (AAT7) MYLK [HSA:4638] [KO:K00907] (AAT8) PRKG1 [HSA:5592] [KO:K07376] (AAT9) MFAP5 [HSA:8076] [KO:K25410] (AAT10) LOX [HSA:4015] [KO:K00277] (AAT11) FOXE3 [HSA:2301] [KO:K09398] (AAT12) THSD4 [HSA:79875] [KO:K23377] |
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H02565 | Hereditary nonpolyposis colorectal cancer | Hereditary non-polyposis colorectal cancer (HNPCC) syndrome is characterized by inherited predisposition to early colorectal carcinoma and extracolonic epithelia-derived tumors most often located in the ... | Cancer |
(HNPCC1) MSH2 [HSA:4436] [KO:K08735] (HNPCC2) MLH1 [HSA:4292] [KO:K08734] (HNPCC4) PMS2 [HSA:5395] [KO:K10858] (HNPCC5) MSH6 [HSA:2956] [KO:K08737] (HNPCC6) TGFBR2 [HSA:7048] [KO:K04388] (HNPCC7) MLH3 [HSA:27030] [KO:K08739] (HNPCC8) EPCAM [HSA:4072] [KO:K06737] |
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