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Entry | Name | Description | Category | Pathway | Gene |
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H00001 |
B-cell acute lymphoblastic leukemia B-cell acute lymphocytic leukemia |
Acute lymphocytic leukemia (ALL) is a clonal stem cell malignancy of excessive lymphoblast proliferation. It is now understood that ALL and lymphoblastic lymphoma are the same disease entities at the morphologic ... | Cancer |
BCR-ABL (translocation) [HSA:25] [KO:K06619] MLL-AF4 (translocation) [HSA:4297 4299] [KO:K09186 K15184] E2A-PBX1 (translocation) [HSA:6929 5087] [KO:K09063 K09355] TEL-AML1 (translocation) [HSA:861] [KO:K08367] c-MYC (rearrangement) [HSA:4609] [KO:K04377] CRLF2 (rearrangement) [HSA:64109] [KO:K05078] PAX5 (rearrangement) [HSA:5079] [KO:K09383] |
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H00002 |
T-cell acute lymphoblastic leukemia T-cell acute lymphocytic leukemia |
Acute lymphocytic leukemia (ALL) is a clonal stem cell malignancy of excessive lymphoblast proliferation. It is now understood that ALL and lymphoblastic lymphoma are the same disease entities at the morphologic ... | Cancer |
NOTCH1 (mutation) [HSA:4851] [KO:K02599] TAL1 (overexpression) [HSA:6886] [KO:K09068] TAL2 [HSA:6887] [KO:K09068] LYL1 (expression) [HSA:4066] [KO:K15604] MLL-ENL (translocation) [HSA:4297] [KO:K09186] HOX11 (translocation) [HSA:3195] [KO:K09340] MYC (translocation) [HSA:4609] [KO:K04377] LMO2 (translocation) [HSA:4005] [KO:K15612] HOX11L2 (translocation) [HSA:30012] [KO:K15607] PICALM-MLLT10 (translocation) [HSA:8028] [KO:K23588] |
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H00003 | Acute myeloid leukemia | ... leukemia (AML) is a disease that is characterized by uncontrolled proliferation of clonal neoplastic cells and accumulation in the bone marrow of blasts with an impaired differentiation program. AML accounts ... | Cancer | hsa05221 Acute myeloid leukemia |
PML-RARalpha (translocation) [HSA:5371] [KO:K10054] AML1-ETO (translocation) [HSA:861] [KO:K08367] PLZF-RARalpha (translocation) [HSA:7704] [KO:K10055] FLT3 [HSA:2322] [KO:K05092] KIT [HSA:3815] [KO:K05091] NRAS [HSA:4893] [KO:K07828] KRAS [HSA:3845] [KO:K07827] AML1 [HSA:861] [KO:K08367] CEBPA [HSA:1050] [KO:K09055] CBFB [HSA:865] [KO:K25826] CHIC2 [HSA:26511] DNMT3A [HSA:1788] [KO:K17398] ETV6 [HSA:2120] [KO:K03211] GATA2 [HSA:2624] [KO:K17894] JAK2 [HSA:3717] [KO:K04447] LPP [HSA:4026] [KO:K16676] MLLT10 [HSA:8028] [KO:K23588] NPM1 [HSA:4869] [KO:K11276] NUP214 [HSA:8021] [KO:K14317] PICALM [HSA:8301] [KO:K20044] SH3GL1 [HSA:6455] [KO:K11247] TERT [HSA:7015] [KO:K11126] |
H00004 | Chronic myeloid leukemia | Chronic myeloid leukemia (CML) is a clonal myeloproliferative disorder of a pluripotent stem cell. The natural history of CML has a triphasic clinical course comprising of an initial chronic phase (CP) ... | Cancer | hsa05220 Chronic myeloid leukemia |
BCR-ABL (translocation) [HSA:613 25] [KO:K08878 K06619] MECOM (overexpression) [HSA:2122] [KO:K04462] RUNX1 (translocation) [HSA:861] [KO:K08367] CDKN2A [HSA:1029] [KO:K06621] TP53 [HSA:7157] [KO:K04451] RB1 [HSA:5925] [KO:K06618] |
H00005 | Chronic lymphocytic leukemia | ... genetic features related to somatic gene mutation or deletions that disrupt apoptosis and enhance tumor cell proliferation. The best characterized genes are TP53 (also known as p53) and ATM, for which mutations ... | Cancer |
Bcl-2 (overexpression) [HSA:596] [KO:K02161] p53 (mutation) [HSA:7157] [KO:K04451] ATM (germline and somatic mutation) [HSA:472] [KO:K04728] Fas (absent) [HSA:355] [KO:K04390] |
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H00006 | Hairy cell leukemia | Hairy cell Leukemia (HCL) is a chronic lymphoproliferative disorder that is defined, according to the WHO classification, as a mature (peripheral) B-cell neoplasm. HCL accounts for between 2-3% of all ... | Cancer |
p53 (mutation) [HSA:7157] [KO:K04451] Bcl-6 (mutation) [HSA:604] [KO:K15618] Cyclin D1 (overexpression) [HSA:595] [KO:K04503] |
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H00007 | Hodgkin lymphoma | ... nodular lymphocyte-predominant HL (NLPHL). A characteristic feature of HL is the rareness of the tumor cells, which are called Hodgkin's and Reed/Sternberg (HRS) cells in classical HL and lymphocytic and ... | Cancer |
NFKBIA [HSA:4792] [KO:K04734] NFKBIE [HSA:4794] [KO:K05872] REL (amplification) [HSA:5966] [KO:K09254] FAS [HSA:355] [KO:K04390] KLHDC8B [HSA:200942] |
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H00008 | Burkitt lymphoma | Burkitt lymphoma (BL) is a highly aggressive mature B-cell non-Hodgkin's lymphoma consisting of endemic, sporadic, and immunodeficiency-associated variants. Endemic BL (eBL) affects children and young ... | Cancer |
MYC-IgH (translocation) [HSA:4609] [KO:K04377] p53 (mutation) [HSA:7157] [KO:K04451] p16/INK4A (promoter methylation) [HSA:1029] [KO:K06621] |
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H00009 | Adult T-cell leukemia | Adult T-cell leukemia (ATL) is one of the most aggressive hematologic malignancies and is caused by human T-cell leukemia virus type 1 (HTLV-1). The HTLV-1 Tax protein has been demonstrated to be the oncogenic ... | Cancer; Viral infectious disease | hsa05166 Human T-cell leukemia virus 1 infection |
p53 (mutation) [HSA:7157] [KO:K04451] p16/INK4A (deletion, promoter methylation) [HSA:1029] [KO:K06621] Fas (mutation) [HSA:355] [KO:K04390] |
H00010 | Multiple myeloma | Multiple myeloma is a disorder in which malignant plasma cells accumulate, generally derived from one clone in the bone marrow. Intricate interactions occur between the bone-marrow microenvironment and ... | Cancer |
CCND1-IgH (translocation) [HSA:595] [KO:K04503] CCND3-IgH (translocation) [HSA:896] [KO:K10152] IgH-FGFR3 (translocation) [HSA:2261] [KO:K05094] IgH-MMSET (translocation) [HSA:7468] [KO:K11424] IgH-MAF (translocation) [HSA:4094] [KO:K09035] N-ras (activating mutation) [HSA:4893] [KO:K07828] K-ras (activating mutation) [HSA:3845] [KO:K07827] c-MYC (dysregulation) [HSA:4609] [KO:K04377] p53 (mutation) [HSA:7157] [KO:K04451] |
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H00011 | Lymphoplasmacytic lymphoma | ... lymphoma (NHL) subtype. LPL/WM is a neoplasm of small B-lymphocytes, plasmacytoid lymphocytes, and plasma cells, usually involving bone marrow, lymph nodes, and the spleen. WM can be distinguished clinically ... | Cancer | Pax5-IgH (translocation) [HSA:5079] [KO:K09383] | |
H00012 | Polycythemia vera | ... myeloproliferative disease characterized by an erythroid dominant trilineage proliferation of hematopoietic precursor cells. PV belongs to the family of chronic myeloproliferative disorders (MPD), which includes hematological ... | Cancer | (PV) JAK2 [HSA:3717] [KO:K04447] | |
H00013 | Small cell lung cancer | Lung cancer is a leading cause of cancer death among men and women in industrialized countries. Small cell lung carcinoma (SCLC) is a highly aggressive neoplasm, which accounts for approximately 25% of all ... | Cancer | hsa05222 Small cell lung cancer |
MYC (amplification) [HSA:4609] [KO:K04377] BCL2 (overexpression) [HSA:596] [KO:K02161] FHIT [HSA:2272] [KO:K01522] TP53 [HSA:7157] [KO:K04451] RB1 [HSA:5925] [KO:K06618] PTEN [HSA:5728] [KO:K01110] PPP2R1B [HSA:5519] [KO:K03456] |
H00014 | Non-small cell lung cancer | ... cancer is a leading cause of cancer death among men and women in industrialized countries. Non-small-cell lung cancer (NSCLC) accounts for approximately 85% of lung cancer and represents a heterogeneous ... | Cancer | hsa05223 Non-small cell lung cancer |
EML4-ALK (translocation) [HSA:238] [KO:K05119] CD74-ROS1,SLC34A2-ROS1 (translocation) [HSA:6098] [KO:K05088] KIF5B-RET (inversion) [HSA:5979] [KO:K05126] RARB (promoter hypermethylation) [HSA:5915] [KO:K08528] RASSF1 (promoter hypermethylation) [HSA:11186] [KO:K09850] KRAS [HSA:3845] [KO:K07827] EGFR [HSA:1956] [KO:K04361] FHIT [HSA:2272] [KO:K01522] CDKN2A [HSA:1029] [KO:K06621] TP53 [HSA:7157] [KO:K04451] MET [HSA:4233] [KO:K05099] BRAF [HSA:673] [KO:K04365] PIK3CA [HSA:5290] [KO:K00922] IRF1 [HSA:3659] [KO:K09444] PPP2R1B [HSA:5519] [KO:K03456] |
H00015 | Malignant pleural mesothelioma | Malignant mesothelioma (MM) is a rare but very aggressive tumor that arises from mesothelial cells lining the pleural, peritoneal and pericardial cavities. Malignant pleural mesothelioma (MPM) is the most ... | Cancer |
p53 (inactivation) [HSA:7157] [KO:K04451] p16/CDKN2A (deletion) [HSA:1029] [KO:K06621] p15/CDKN2B (deletion) [HSA:1030] [KO:K04685] NF2 (mutation) [HSA:4771] [KO:K16684] PDGF-A (overexpression) [HSA:5154] [KO:K04359] PDGF-B (overexpression) [HSA:5155] [KO:K17386] IGF-1 (expression) [HSA:3479] [KO:K05459] IGF-R1 (expression) [HSA:3480] [KO:K05087] |
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H00016 | Oral cancer | ... according to the International Classification of Diseases. Nevertheless, the term is synonymous to squamous cell carcinoma (SCC) of oral mucosal origin that accounts for more than 90% of all malignant presentations ... | Cancer |
p53 (mutation, deletion) [HSA:7157] [KO:K04451] p16/INK4A (mutation, loss of expression) [HSA:1029] [KO:K06621] EGFR (overexpression) [HSA:1956] [KO:K04361] c-myc/N-myc (amplification, overexpression) [HSA:4609] [KO:K04377] N-ras (amplification) [HSA:4893] [KO:K07828] K-ras (amplification) [HSA:3845] [KO:K07827] Cyclin D1 (amplification) [HSA:595] [KO:K04503] STAT-3 (expression) [HSA:6774] [KO:K04692] |
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H00017 | Esophageal 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). ESCC is the most frequent histological subtype in esophageal ... | 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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H00021 | Renal cell carcinoma | Renal cell cancer (RCC) accounts for ~3% of human malignancies and its incidence appears to be rising. Although most cases of RCC seem to occur sporadically, an inherited predisposition to renal cancer ... | Cancer | hsa05211 Renal cell carcinoma |
PRCC-TFE3 (translocation) [HSA:5546 7030] [KO:K13105 K09105] VHL (germline mutation (VHL disease), somatic mutation) [HSA:7428] [KO:K03871] MET (germline activating mutation (HPRC), somatic activating mutation) [HSA:4233] [KO:K05099] FH (germline loss-of-function mutation (HLPCC), LOH, somatic mutation) [HSA:2271] [KO:K01679] FLCN (germline mutation (Birt-Hogg-Dube syndrome)) [HSA:201163] [KO:K09594] HNF1A [HSA:6927] [KO:K08036] OGG1 [HSA:4968] [KO:K03660] PBRM1 [HSA:55193] [KO:K11757] |
H00023 | Testicular cancer | Testicular germ cell tumor (TGCT) comprises about 98% of all testicular neoplasms and is thereby the most common malignancy among young males. Overall, three different entities of TGCT can be distinguished: ... | Cancer |
CCND2 (amplification) [HSA:894] [KO:K10151] FGFR3 [HSA:2261] [KO:K05094] KIT [HSA:3815] [KO:K05091] STK11 [HSA:6794] [KO:K07298] |
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H00024 | Prostate cancer | ... leading cause of male cancer deaths. The identification of key molecular alterations in prostate-cancer cells implicates carcinogen defenses (GSTP1), growth-factor-signaling pathways (NKX3.1, PTEN, and p27) ... | Cancer | hsa05215 Prostate cancer |
AR (amplification, mutation) [HSA:367] [KO:K08557] CDKN1B (allelic loss) [HSA:1027] [KO:K06624] NKX3.1 (allelic loss) (decreased expression) [HSA:4824] [KO:K09348] PTEN (allelic loss) [HSA:5728] [KO:K01110] GSTP1 (hypermethylation) [HSA:2950] [KO:K23790] TMPRSS2-ERG (translocation) [HSA:2078] [KO:K09435] TMPRSS2-ETV1 (translocation) [HSA:2115] [KO:K09431] TMPRSS2-ETV4 (translocation) [HSA:2118] [KO:K15592] TMPRSS2-ETV5 (translocation) [HSA:2119] [KO:K15593] SLC45A3-ETV1 (translocation) [HSA:2115] [KO:K09431] SLC45A3-ELK4 (translocation) [HSA:2005] [KO:K04376] DDX5-ETV4 (translocation) [HSA:2118] [KO:K15592] MAD1L1 (somatic mutation) [HSA:8379] [KO:K06679] KLF6 (somatic mutation) [HSA:1316] [KO:K09207] MXI1 (somatic mutation) [HSA:4601] [KO:K09114] ZFHX3 (somatic mutation) [HSA:463] [KO:K09378] |
H00025 | Penile cancer | ... is relatively rare in developed countries but more common in South America and East Africa. Squamous cell carcinoma (SCC) is the predominant tumor type in penile cancer, accounting for 95% of cases. Penile ... | Cancer |
p16/INK4a (promoter hypermethylation) [HSA:1029] [KO:K06621] BMI1 (overexpression) [HSA:648] [KO:K11459] p53 (mutation) [HSA:7157] [KO:K04451] MDM2 (overexpression) [HSA:4193] [KO:K06643] H-ras (mutation) [HSA:3265] [KO:K02833] c-MYC (mutation) [HSA:4609] [KO:K04377] E-Cadherin (expression) [HSA:999] [KO:K05689] MMP-2 (expression) [HSA:4313] [KO:K01398] MMP-9 (expression) [HSA:4318] [KO:K01403] COX-2 (expression) [HSA:5743] [KO:K11987] PTGES2 (expression) [HSA:80142] [KO:K05309] |
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H00027 | Ovarian cancer | ... cancer arises within the ovarian surface epithelium (OSE), with the rest originating from granulosa cells or, rarely, stroma or germ cells. Ovarian epithelial tumors are divided into mucinous, serous, ... | Cancer |
BRCA1 (germline mutation / deletion) [HSA:672] [KO:K10605] BRCA2 (germline mutation / deletion) [HSA:675] [KO:K08775] MSH2 (germline mutation) [HSA:4436] [KO:K08735] MLH1 (germline mutation) [HSA:4292] [KO:K08734] ERBB2 (amplification / overexpression) [HSA:2064] [KO:K05083] K-ras (mutation) [HSA:3845] [KO:K07827] AKT2 (amplification) [HSA:208] [KO:K04456] PIK3CA (amplification) [HSA:5290] [KO:K00922] c-MYC (overexpression) [HSA:4609] [KO:K04377] p53 (mutation / deletion, overexpression) [HSA:7157] [KO:K04451] CTNNB1 [HSA:1499] [KO:K02105] PRKN [HSA:5071] [KO:K04556] OPCML [HSA:4978] [KO:K06773] AKT1 [HSA:207] [KO:K04456] CDH1 [HSA:999] [KO:K05689] |
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H00029 | Vulvar cancer | ... is a relatively uncommon malignancy, occurring at a rate of 2.2 per 100,000 women per year. Squamous cell carcinoma (SCC) is the most common type of vulvar cancer and is observed in 80% to 90% of cases ... | Cancer |
PTEN (mutation) [HSA:5728] [KO:K01110] p53 (mutation) [HSA:7157] [KO:K04451] |
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H00030 | Cervical cancer | ... Experimental studies show that the E6 and E7 genes of these high risk HPVs are oncogenes that deregulate key cell cycle controls. The E6 and E7 oncoproteins bind respectively to the p53 and Retinoblastoma (Rb) ... | Cancer |
K-ras (mutation) [HSA:3845] [KO:K07827] H-ras (mutation) [HSA:3265] [KO:K02833] EGFR (amplification) [HSA:1956] [KO:K04361] ERBB2 (amplification) [HSA:2064] [KO:K05083] p21 (overexpression) [HSA:1026] [KO:K06625] CDK4 (overexpression) [HSA:1019] [KO:K02089] Bcl-2 (overexpression) [HSA:596] [KO:K02161] |
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H00031 | Breast cancer | ... death among women worldwide. The vast majority of breast cancers are carcinomas that originate from cells lining the milk-forming ducts of the mammary gland. The molecular subtypes of breast cancer, which ... | Cancer | hsa05224 Breast cancer |
BRCA1 (germline mutation, hypermethylation) [HSA:672] [KO:K10605] BRCA2 [HSA:675] [KO:K08775] BARD1 [HSA:580] [KO:K10683] BRIP1 [HSA:83990] [KO:K15362] PALB2 [HSA:79728] [KO:K10897] RAD51 [HSA:5888] [KO:K04482] RAD54L [HSA:8438] [KO:K10875] XRCC3 [HSA:7517] [KO:K10880] ERBB2/HER2 (overexpression) [HSA:2064] [KO:K05083] ESR1/ER1 [HSA:2099] [KO:K08550] PGR [HSA:5241] [KO:K08556] GATA3 [HSA:2625] [KO:K17895] PIK3CA [HSA:5290] [KO:K00922] TP53 [HSA:7157] [KO:K04451] PPM1D [HSA:8493] [KO:K10147] RB1CC1 [HSA:9821] [KO:K17589] HMMR [HSA:3161] [KO:K06267] NQO2 [HSA:4835] [KO:K08071] SLC22A18 [HSA:5002] [KO:K08214] PTEN [HSA:5728] [KO:K01110] EGFR (overexpression) [HSA:1956] [KO:K04361] KIT (overexpression) [HSA:3815] [KO:K05091] NOTCH1 (overexpression) [HSA:4851] [KO:K02599] NOTCH4 (overexpression) [HSA:4855] [KO:K20996] FZD7 (overexpression) [HSA:8324] [KO:K02432] LRP6 (overexpression) [HSA:4040] [KO:K03068] FGFR1 (amplification) [HSA:2260] [KO:K04362] CCND1 (amplification) [HSA:595] [KO:K04503] |
H00032 | Thyroid cancer | ... endocrine cancer- related deaths each year. More than 95% of thyroid carcinomas are derived from follicular cells. Their behavior varies from the indolent growing, well-differentiated papillary and follicular ... | Cancer | hsa05216 Thyroid cancer |
RET/CCDC6 (rearrangement) [HSA:5979 8030] [KO:K05126 K09288] RET/NCOA4 (rearrangement) [HSA:5979 8031] [KO:K05126 K09289] TPM3/NTRK1 (rearrangement) [HSA:4914 7170] [KO:K03176 K09290] TPR/NTRK1 (rearrangement) [HSA:7175 7170] [KO:K09291 K09290] TFG/NTRK1 (rearrangement) [HSA:10342 7170] [KO:K09292 K09290] PAX8/PPARG (rearrangement) [HSA:7849 5468] [KO:K09293 K08530] KRAS [HSA:3845] [KO:K07827] HRAS [HSA:3265] [KO:K02833] NRAS [HSA:4893] [KO:K07828] BRAF [HSA:673] [KO:K04365] CTNNB1 [HSA:1499] [KO:K02105] TP53 [HSA:7157] [KO:K04451] CDH1 [HSA:999] [KO:K05689] MINPP1 [HSA:9562] [KO:K03103] (NMTC1) NKX2-1 [HSA:7080] [KO:K09342] (NMTC2) SRGAP1 [HSA:57522] [KO:K07526] (NMTC4) FOXE1 [HSA:2304] [KO:K09398] (NMTC5) HABP2 [HSA:3026] [KO:K08648] |
H00034 | Carcinoid | ... gastrointestinal neoplasms. They most frequently occur in the midgut and develop from neuroendocrine cells that are normally and diffusely present in this location. Most carcinoids are sporadic but epidemiological ... | Cancer |
MEN1 (mutation, LOH) [HSA:4221] [KO:K14970] SDHD (germline mutation, LOH) [HSA:6392] [KO:K00237] |
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H00037 | Rhabdomyosarcoma | ... PAX7-FOXO1A fusion products, respectively. These translocations result in altered expression, function, and subcellular localization of the fusion products relative to the wild-type proteins, and ultimately contribute ... | Cancer |
PAX3-FOXO1 (translocation) [HSA:5077 2308] [KO:K09381 K07201] PAX7-FOXO1 (translocation) [HSA:5081 2308] [KO:K09381 K07201] MDM2 (amplification) [HSA:4193] [KO:K06643] SLC22A18 [HSA:5002] [KO:K08214] DICER1 [HSA:23405] [KO:K11592] |
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H00038 | Melanoma | ... rise in Western populations. Melanoma arises from the malignant transformation of pigment-producing cells, melanocytes. The only known environmental risk factor is exposure to ultraviolet (UV) light and ... | Cancer | hsa05218 Melanoma |
(CMM2) CDKN2A [HSA:1029] [KO:K06621] (CMM3) CDK4 [HSA:1019] [KO:K02089] (CMM5) MC1R [HSA:4157] [KO:K04199] (CMM6) XRCC3 [HSA:7517] [KO:K10880] (CMM8) MITF (amplification) [HSA:4286] [KO:K09455] (CMM9) TERT [HSA:7015] [KO:K11126] (CMM10) POT1 [HSA:25913] [KO:K11109] BRAF [HSA:673] [KO:K04365] STK11 [HSA:6794] [KO:K07298] NRAS [HSA:4893] [KO:K07828] PTEN [HSA:5728] [KO:K01110] TP53 [HSA:7157] [KO:K04451] |
H00039 | Basal cell carcinoma | Cancer of the skin is the most common cancer in Caucasians and basal cell carcinomas (BCC) account for 90% of all skin cancers. The vast majority of BCC cases are sporadic, though there is a rare familial ... | Cancer | hsa05217 Basal cell carcinoma |
(BCC1) SMO [HSA:6608] [KO:K06226] (BCC1) PTCH1 [HSA:5727] [KO:K06225] (BCC1) PTCH2 [HSA:8643] [KO:K11101] (BCC1) RASA1 [HSA:5921] [KO:K04352] (BCC7) TP53 [HSA:7157] [KO:K04451] |
H00040 | Squamous cell carcinoma | Non-melanoma skin cancer, i.e. basal cell carcinoma (BCC) and squamous cell carcinoma (SCC) are the most frequent tumors and their number is still increasing world- wide. Approximately 200000 cases of ... | Cancer |
p53 (mutation) [HSA:7157] [KO:K04451] p16/INK4A (mutation) [HSA:1029] [KO:K06621] H-ras (mutation) [HSA:3265] [KO:K02833] K-ras (mutation) [HSA:3845] [KO:K07827] |
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H00041 | Kaposi sarcoma | ... (LANA, v-cyc D, v-FLIP, Kaposin). All these genes are, in fact, expressed or altered in most KS spindle cells in the nodular-late stage of KS. Bcl-2 acts as a major KS progression factor, and TP53 and c-myc ... | Cancer; Viral infectious disease | hsa05167 Kaposi sarcoma-associated herpesvirus infection |
BCL2 (overexpression) [HSA:596] [KO:K02161] MYC (overexpression) [HSA:4609] [KO:K04377] FGF3 (overexpression, mutation) [HSA:2248] [KO:K04358] KRAS (overexpression, mutation) [HSA:3845] [KO:K07827] TP53 [HSA:7157] [KO:K04451] |
H00042 | Glioma | ... predominantly of astrocytes (astrocytomas), oligodendrocytes (oligodendrogliomas), mixtures of various glial cells (for example,oligoastrocytomas) and ependymal cells (ependymomas). The most malignant form of infiltrating ... | Cancer | hsa05214 Glioma |
(GLM1) IDH1 [HSA:3417] [KO:K00031] (GLM1) TP53 [HSA:7157] [KO:K04451] (GLM1) ERBB2 [HSA:2064] [KO:K05083] (GLM2) PTEN [HSA:5728] [KO:K01110] (GLM3) BRCA2 [HSA:675] [KO:K08775] (GLM9) POT1 [HSA:25913] [KO:K11109] EGFR (amplification, overexpression) [HSA:1956] [KO:K04361] MDM2 (amplification, overexpression) [HSA:4193] [KO:K06643] CDK4 (amplification) [HSA:1019] [KO:K02089] PDGFA (overexpression) [HSA:5154] [KO:K04359] PDGFB (overexpression) [HSA:5155] [KO:K17386] PDGFRA (overexpression, amplification) [HSA:5156] [KO:K04363] PDGFRB (overexpression, amplification) [HSA:5159] [KO:K05089] RB1 (loss) [HSA:5925] [KO:K06618] CDKN2A [HSA:1029] [KO:K06621] |
H00043 | Neuroblastoma | Neuroblastoma is a tumor derived from primitive cells of the sympathetic nervous system and is the most common solid tumor in childhood. Approximately one-half of children have localized tumors that can ... | Cancer |
MYCN (normal/amplified) [HSA:4613] [KO:K09109] NTRK1 (high/low expression) [HSA:4914] [KO:K03176] NTRK2 (low/high expression) [HSA:4915] [KO:K04360] NTRK3 (high/low expression) [HSA:4916] [KO:K05101] (NBLST1) KIF1B [HSA:23095] [KO:K10392] (NBLST2) PHOX2B [HSA:8929] [KO:K09330] (NBLST3) ALK [HSA:238] [KO:K05119] |
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H00044 | Cancer of the anal canal | Squamous cell carcinoma of the anal canal accounts for 1.5 per cent of all digestive system cancers in the USA, with an estimated 4,660 new cases and 660 deaths in 2006. Epidemiological and molecular-biology ... | Cancer |
p53 (mutation) [HSA:7157] [KO:K04451] DCC (mutation) [HSA:1630] [KO:K06765] APC (mutation) [HSA:324] [KO:K02085] |
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H00045 | Pancreatic neuroendocrine tumor | Pancreatic neuroendocrine tumors (PNETs), also known as islet cell tumors, are rare neoplasms that arise in the endocrine tissues of the pancreas. They may occur sporadically or in association with a genetic ... | Cancer |
MEN1 [HSA:4221] [KO:K14970] DAXX [HSA:1616] [KO:K02308] ATRX [HSA:546] [KO:K10779] |
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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] |
H00049 | Myxoid liposarcoma | ... often in the thigh and retroperitoneum. LSs are subclassified into well-differentiated, myxoid, round cell, and pleomorphic types. The myxoid type, the most common subtype, accounts for approximately 40% ... | Cancer |
FUS-DDIT3 (translocation) [HSA:1649] [KO:K04452] EWSR1-DDIT3 (translocation) [HSA:1649] [KO:K04452] |
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H00052 | Clear cell sarcoma of soft tissue | ... all malignant diseases and there are less than 8,700 new cases per year in the United States. Clear cell sarcoma (CCS), a highly malignant tumor of deep soft tissues is perhaps the rarest of these. CCS ... | Cancer | EWSR1-ATF1 (translocation) [HSA:466] [KO:K09053] | |
H00053 | Extraskeletal myxoid chondrosarcoma | ... been identified. The abnormal proteins resulting from these fusion genes aberrantly affect gene transcription and cellular signaling pathways thought to be responsible for initiating sarcoma formation. | Cancer |
EWSR1-NR4A3 (translocation) [HSA:8013] [KO:K08559] TAF15-NR4A3 (translocation) [HSA:8013] [KO:K08559] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |