KEGG MEDICUS 医薬品情報 |
利用法 Top |
エントリ | 名称 | カテゴリ | パスウェイ | 病因遺伝子 |
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H00002 |
T細胞急性リンパ性白血病 T細胞リンパ芽球性白血病 |
がん |
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 | 急性骨髄性白血病 | がん | hsa05221 急性骨髄性白血病 |
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] [KO:K28185] 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 | 慢性骨髄性白血病 | がん | hsa05220 慢性骨髄性白血病 |
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 | 慢性リンパ性白血病 | がん |
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 |
有毛細胞白血病 ヘアリー細胞白血病 ヘアリーセル白血病 |
がん |
p53 (mutation) [HSA:7157] [KO:K04451] Bcl-6 (mutation) [HSA:604] [KO:K15618] Cyclin D1 (overexpression) [HSA:595] [KO:K04503] |
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H00009 | 成人T細胞性白血病 | がん; ウイルス感染症 | hsa05166 ヒトT細胞白血病ウイルス1感染 |
p53 (mutation) [HSA:7157] [KO:K04451] p16/INK4A (deletion, promoter methylation) [HSA:1029] [KO:K06621] Fas (mutation) [HSA:355] [KO:K04390] |
H00010 | 多発性骨髄腫 | がん |
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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H00012 | 真性赤血球増加症 | がん | (PV) JAK2 [HSA:3717] [KO:K04447] | |
H00013 | 小細胞肺癌 | がん | hsa05222 小細胞肺癌 |
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 | 非小細胞肺癌 | がん | hsa05223 非小細胞肺癌 |
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] NRG1 (fusion) [HSA:3084] [KO:K05455] 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 | 悪性胸膜中皮腫 | がん |
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 | 口腔癌 | がん |
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 | 食道癌 | がん |
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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H00018 | 胃癌 | がん | hsa05226 胃癌 |
CDX2 (overexpression) [HSA:1045] [KO:K22234] TERT (overexpression) [HSA:7015] [KO:K11126] RARB (reduced expression) [HSA:5915] [KO:K08528] CDKN1B (reduced expression) [HSA:1027] [KO:K06624] TGFBR1 (reduced expression) [HSA:7046] [KO:K04674] ERBB2 (amplification) [HSA:2064] [KO:K05083] CCNE1 (amplification) [HSA:898] [KO:K06626] MET (amplification) [HSA:4233] [KO:K05099] FGFR2 (amplification) [HSA:2263] [KO:K05093] MLH1 (methylation) [HSA:4292] [KO:K08734] TP53 [HSA:7157] [KO:K04451] APC [HSA:324] [KO:K02085] CTNNB1 [HSA:1499] [KO:K02105] KRAS [HSA:3845] [KO:K07827] NRAS [HSA:4893] [KO:K07828] CDH1 [HSA:999] [KO:K05689] MUTYH [HSA:4595] [KO:K03575] PIK3CA [HSA:5290] [KO:K00922] CASP10 [HSA:843] [KO:K04400] IRF1 [HSA:3659] [KO:K09444] KLF6 [HSA:1316] [KO:K09207] |
H00019 | 膵癌 | がん | hsa05212 膵癌 |
KRAS [HSA:3845] [KO:K07827] TP53 [HSA:7157] [KO:K04451] SMAD4 [HSA:4089] [KO:K04501] STK11 [HSA:6794] [KO:K07298] ACVR1B [HSA:91] [KO:K13567] ERBB2 (overexpression) [HSA:2064] [KO:K05083] CDKN2A (mutation, deletion, promoter methylation) [HSA:1029] [KO:K06621] NRG1 (fusion) [HSA:3084] [KO:K05455] (PNCA1) PALLD [HSA:23022] [KO:K22029] (PNCA2) BRCA2 [HSA:675] [KO:K08775] (PNCA3) PALB2 [HSA:79728] [KO:K10897] (PNCA4) BRCA1 [HSA:672] [KO:K10605] (PNCA5) RABL3 [HSA:285282] [KO:K07933] |
H00020 |
結腸・直腸癌 大腸癌 |
がん | hsa05210 大腸癌 |
(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] DLC1 [HSA:10395] [KO:K20632] MCC [HSA:4163] [KO:K26734] PTPN12 [HSA:5782] [KO:K18024] AKT1 [HSA:207] [KO:K04456] EP300 [HSA:2033] [KO:K04498] FGFR3 [HSA:2261] [KO:K05094] PDGFRL [HSA:5157] [KO:K25716] PTPRJ [HSA:5795] [KO:K05698] RAD54B [HSA:25788] [KO:K10877] SRC [HSA:6714] [KO:K05704] EGF (overexpression) [HSA:1950] [KO:K04357] TGFA (overexpression) [HSA:7039] [KO:K08774] EREG (overexpression) [HSA:2069] [KO:K09784] AREG (overexpression) [HSA:374] [KO:K09782] |
H00021 | 腎細胞癌 | がん | hsa05211 腎細胞癌 |
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] HNF1B [HSA:6928] [KO:K08034] OGG1 [HSA:4968] [KO:K03660] PBRM1 [HSA:55193] [KO:K11757] RNF139 [HSA:11236] [KO:K15703] |
H00022 | 膀胱癌 | がん | hsa05219 膀胱癌 |
HRAS (activating mutation) [HSA:3265] [KO:K02833] KRAS (activating mutation) [HSA:3845] [KO:K07827] FGFR3 (activating mutation) [HSA:2261] [KO:K05094] p16/INK4A (homozygous deletion or hypermethylation) [HSA:1029] [KO:K06621] p53 (inactivating mutation or deletion) [HSA:7157] [KO:K04451] RB1 (deletion or hyperphosphorylation) [HSA:5925] [KO:K06618] EGFR (overexpression) [HSA:1956] [KO:K04361] ERBB2 (overexpression) [HSA:2064] [KO:K05083] RASSF1 (hypermethylation) [HSA:11186] [KO:K09850] DAPK1 (hypermethylation) [HSA:1612] [KO:K08803] |
H00024 | 前立腺癌 | がん | hsa05215 前立腺癌 |
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 | 陰茎癌 | がん |
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 | 卵巣癌 | がん |
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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H00028 | 絨毛癌 | がん |
p53 (overexpression) [HSA:7157] [KO:K04451] MdM2 (overexpression) [HSA:4193] [KO:K06643] EGFR (overexpression) [HSA:1956] [KO:K04361] c-MYC (overexpression) [HSA:4609] [KO:K04377] ERBB2 (overexpression) [HSA:2064] [KO:K05083] c-FMS (overexpression) [HSA:1436] [KO:K05090] Bcl-2 (overexpression) [HSA:596] [KO:K02161] MMP-1 (overexpression) [HSA:4312] [KO:K01388] MMP-2 (overexpression) [HSA:4313] [KO:K01398] |
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H00030 | 子宮頸癌 | がん |
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 | 乳癌 | がん | hsa05224 乳癌 |
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] |
H00033 | 副腎癌 | がん |
ACTH-R (deletion) [HSA:4158] [KO:K04200] GNAI2 (mutation) [HSA:2771] [KO:K04630] N-ras (mutation) [HSA:4893] [KO:K07828] IGF II (overexpression) [HSA:3481] [KO:K13769] p53 (LOH, mutation) [HSA:7157] [KO:K04451] p16/INK4A (LOH, low expression) [HSA:1028] [KO:K09993] MEN1 (LOH, mutation) [HSA:4221] [KO:K14970] |
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H00035 | ユーイング肉腫 | がん |
EWSR1-FLI1 (translocation) [HSA:2313] [KO:K09436] EWSR1-ERG (translocation) [HSA:2078] [KO:K09435] EWSR1-ETV1 (translocation) [HSA:2115] [KO:K09431] EWSR1-ETV4 (translocation) [HSA:2118] [KO:K15592] EWSR1-FEV (translocation) [HSA:54738] [KO:K09437] EWSR1 [HSA:2130] [KO:K13209] |
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H00041 | カポジ肉腫 | がん; ウイルス感染症 | hsa05167 カポジ肉腫関連ヘルペスウイルス感染 |
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 | 神経膠腫 | がん | hsa05214 神経膠腫 |
(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] |
H00046 | 胆管癌 | がん |
K-ras (mutation) [HSA:3845] [KO:K07827] p53 (mutation) [HSA:7157] [KO:K04451] c-Met (overexpression) [HSA:4233] [KO:K05099] ERBB2 (overexpression, amplification) [HSA:2064] [KO:K05083] p16/INK4A (mutation) [HSA:1029] [KO:K06621] COX2 (overexpression) [HSA:5743] [KO:K11987] |
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H00048 |
肝細胞癌 肝癌 |
がん | hsa05225 肝細胞癌 |
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] |
H00050 | 滑膜肉腫 | がん |
SYT-SSX1 (translocation) [HSA:6756] [KO:K15624] SYT-SSX2 (translocation) [HSA:6757] [KO:K15624] IGF-IR (overexpression) [HSA:3480] [KO:K05087] |
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H00054 | 鼻咽頭癌 | がん |
(NPCA3) MST1R [HSA:4486] [KO:K05100] RASSF1 (promoter hypermethylation) [HSA:11186] [KO:K09850] CDKN2A (promoter hypermethylation) [HSA:1029] [KO:K06621] BCL2 (overexpression) [HSA:596] [KO:K02161] EDNRB (promoter hypermethylation) [HSA:1910] [KO:K04198] CADM1 (promoter hypermethylation) [HSA:23705] [KO:K06781] CDH1 (decreased expression) [HSA:999] [KO:K05689] |
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H00057 | パーキンソン病 | 神経変性疾患 | hsa05012 パーキンソン病 |
(PARK1/PARK4) SNCA (duplication, triplication) [HSA:6622] [KO:K04528] (PARK2) PRKN [HSA:5071] [KO:K04556] (PARK5) UCHL1 [HSA:7345] [KO:K05611] (PARK6) PINK1 [HSA:65018] [KO:K05688] (PARK7) PARK7 [HSA:11315] [KO:K05687] (PARK8) LRRK2 [HSA:120892] [KO:K08844] (PARK9) ATP13A2 [HSA:23400] [KO:K13526] (PARK11) GIGYF2 [HSA:26058] [KO:K18730] (PARK13) HTRA2 [HSA:27429] [KO:K08669] (PARK14) PLA2G6 [HSA:8398] [KO:K16343] (PARK15) FBXO7 [HSA:25793] [KO:K10293] (PARK17) VPS35 [HSA:55737] [KO:K18468] (PARK18) EIF4G1 [HSA:1981] [KO:K03260] (PARK19A/19B) DNAJC6 [HSA:9829] [KO:K09526] (PARK20) SYNJ1 [HSA:8867] [KO:K20279] (PARK22) CHCHD2 [HSA:51142] [KO:K22758] (PARK23) VPS13C [HSA:54832] [KO:K19525] (PARK24) PSAP [HSA:5660] [KO:K12382] (PARK25) PTPA [HSA:5524] [KO:K17605] (PARK26) RAB32 [HSA:10981] [KO:K07918] MAPT [HSA:4137] [KO:K04380] |
H00058 | 筋萎縮性側索硬化症 (ALS) | 神経変性疾患 | hsa05014 筋萎縮性側索硬化症 |
(ALS1) SOD1 [HSA:6647] [KO:K04565] (ALS1) NEFH [HSA:4744] [KO:K04574] (ALS1) PRPH [HSA:5630] [KO:K07607] (ALS1) DCTN1 [HSA:1639] [KO:K04648] (ALS2) ALS2 [HSA:57679] [KO:K04575] (ALS4) SETX [HSA:23064] [KO:K10706] (ALS5) SPG11 [HSA:80208] [KO:K19026] (ALS6) FUS [HSA:2521] [KO:K13098] (ALS8) VAPB [HSA:9217] [KO:K10707] (ALS9) ANG [HSA:283] [KO:K16631] (ALS10) TARDBP [HSA:23435] [KO:K23600] (ALS11) FIG4 [HSA:9896] [KO:K22913] (ALS12) OPTN [HSA:10133] [KO:K19946] (ALS15) UBQLN2 [HSA:29978] [KO:K04523] (ALS16) SIGMAR1 [HSA:10280] [KO:K20719] (ALS18) PFN1 [HSA:5216] [KO:K05759] (ALS19) ERBB4 [HSA:2066] [KO:K05085] (ALS20) HNRNPA1 [HSA:3178] [KO:K12741] (ALS21) MATR3 [HSA:9782] [KO:K13213] (ALS22) TUBA4A [HSA:7277] [KO:K07374] (ALS23) ANXA11 [HSA:311] [KO:K17095] (ALS24) NEK1 [HSA:4750] [KO:K08857] (ALS25) KIF5A [HSA:3798] [KO:K10396] (ALS26) TIA1 [HSA:7072] [KO:K13201] (ALS27) SPTLC1 [HSA:10558] [KO:K00654] (ALS28) LRP12 [HSA:29967] [KO:K20050] (ALSPDC) TRPM7 [HSA:54822] [KO:K04982] (ALSPDC) MAPT [HSA:4137] [KO:K04380] |
H00063 | 脊髄小脳失調症 | 神経変性疾患 | hsa05017 脊髄小脳失調症 |
(SCA1) ATXN1 [HSA:6310] [KO:K23616] (SCA2) ATXN2 [HSA:6311] [KO:K23625] (SCA3) ATXN3 [HSA:4287] [KO:K11863] (SCA4) ZFHX3 [HSA:463] [KO:K09378] (SCA5) SPTBN2 [HSA:6712] [KO:K23932] (SCA6) CACNA1A [HSA:773] [KO:K04344] (SCA7) ATXN7 [HSA:6314] [KO:K11318] (SCA8) ATXN8OS [HSA:6315] [KO:K23933] (SCA10) ATXN10 [HSA:25814] [KO:K19323] (SCA11) TTBK2 [HSA:146057] [KO:K08815] (SCA12) PPP2R2B [HSA:5521] [KO:K04354] (SCA13) KCNC3 [HSA:3748] [KO:K04889] (SCA14) PRKCG [HSA:5582] [KO:K19663] (SCA15/29) ITPR1 [HSA:3708] [KO:K04958] (SCA17) TBP [HSA:6908] [KO:K03120] (SCA19/22) KCND3 [HSA:3752] [KO:K04893] (SCA21) TMEM240 [HSA:339453] [KO:K24870] (SCA23) PDYN [HSA:5173] [KO:K15840] (SCA25) PNPT1 [HSA:87178] [KO:K00962] (SCA26) EEF2 [HSA:1938] [KO:K03234] (SCA27A/27B) FGF14 [HSA:2259] [KO:K23920] (SCA28) AFG3L2 [HSA:10939] [KO:K08956] (SCA31) BEAN1 [HSA:146227] [KO:K19324] (SCA34) ELOVL4 [HSA:6785] [KO:K10249] (SCA35) TGM6 [HSA:343641] [KO:K05624] (SCA36) NOP56 [HSA:10528] [KO:K14564] (SCA37) DAB1 [HSA:1600] [KO:K20054] (SCA38) ELOVL5 [HSA:60481] [KO:K10244] (SCA40) CCDC88C [HSA:440193] [KO:K25811] (SCA41) TRPC3 [HSA:7222] [KO:K04966] (SCA42/42ND) CACNA1G [HSA:8913] [KO:K04854] (SCA43) MME [HSA:4311] [KO:K01389] (SCA44) GRM1 [HSA:2911] [KO:K04603] (SCA45) FAT2 [HSA:2196] [KO:K16506] (SCA46) PLD3 [HSA:23646] [KO:K16860] (SCA47) PUM1 [HSA:9698] [KO:K17943] (SCA48) STUB1 [HSA:10273] [KO:K09561] (SCA49) SAMD9L [HSA:219285] [KO:K23949] (SCA50) NPTX1 [HSA:4884] [KO:K25709] (SCA51) THAP11 [HSA:57215] [KO:K23211] |
H00084 | 移植片対宿主病 | 免疫系疾患 | hsa05332 移植片対宿主病 |
IL10 [HSA:3586] [KO:K05443] TNF [HSA:7124] [KO:K03156] IL1A [HSA:3552] [KO:K04383] IL1RN [HSA:3557] [KO:K05481] IFNG [HSA:3458] [KO:K04687] IL6 [HSA:3569] [KO:K05405] TGFB1 [HSA:7040] [KO:K13375] TGFB2 [HSA:7042] [KO:K13376] TGFB3 [HSA:7043] [KO:K13377] IL13 [HSA:3596] [KO:K05435] TNFRSF1B [HSA:7133] [KO:K05141] IL2 [HSA:3558] [KO:K05429] |
H00087 | 他の体液性免疫不全症 | 免疫系疾患 |
DNMT3B [HSA:1789] [KO:K17399] IGKC Ig heavy chain |
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H00088 | 分類不能型免疫不全症 | 免疫系疾患 |
(CVID1) ICOS [HSA:29851] [KO:K06713] (CVID2) TNFRSF13B [HSA:23495] [KO:K05150] (CVID3) CD19 [HSA:930] [KO:K06465] (CVID4) TNFRSF13C [HSA:115650] [KO:K05151] (CVID5) MS4A1 [HSA:931] [KO:K06466] (CVID6) CD81 [HSA:975] [KO:K06508] (CVID7) CR2 [HSA:1380] [KO:K04012] (CVID8) LRBA [HSA:987] [KO:K24181] (CVID10) NFKB2 [HSA:4791] [KO:K04469] (CVID11) IL21 [HSA:59067] [KO:K05434] (CVID12) NFKB1 [HSA:4790] [KO:K02580] (CVID13) IKZF1 [HSA:10320] [KO:K09220] (CVID14) IRF2BP2 [HSA:359948] [KO:K27448] (CVID15) SEC61A1 [HSA:29927] [KO:K10956] |
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H00100 | 好中球減少症 | 原発性免疫不全症 |
(SCN1) ELANE [HSA:1991] [KO:K01327] (SCN2/NI-CINA) GFI1 [HSA:2672] [KO:K09223] (SCN3) HAX1 [HSA:10456] [KO:K16220] (SCN4) G6PC3 [HSA:92579] [KO:K01084] (SCN5) VPS45 [HSA:11311] [KO:K12479] (SCN6) JAGN1 [HSA:84522] [KO:K25789] (SCN7) CSF3R [HSA:1441] [KO:K05061] (SCN8) SRP54 [HSA:6729] [KO:K03106] (SCN9) CLPB [HSA:81570] [KO:K03695] (SCN10) SRP68 [HSA:6730] [KO:K03107] (SCN11) SEC61A1 [HSA:29927] [KO:K10956] (SCNX) WAS [HSA:7454] [KO:K05747] (CyN) ELANE [HSA:1991] [KO:K01327] |
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H00110 | コレラ | 細菌感染症 | hsa05110 コレラ菌感染 |
[ KEGG | KEGG DRUG | KEGG MEDICUS ] |