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 |
---|---|---|---|---|
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] |
H00043 |
神経芽腫 神経芽細胞腫 |
がん |
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 | 肛門管癌 | がん |
p53 (mutation) [HSA:7157] [KO:K04451] DCC (mutation) [HSA:1630] [KO:K06765] APC (mutation) [HSA:324] [KO:K02085] |
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H00045 | 膵神経内分泌腫瘍 | がん |
MEN1 [HSA:4221] [KO:K14970] DAXX [HSA:1616] [KO:K02308] ATRX [HSA:546] [KO:K10779] |
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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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H00047 | 胆嚢癌 | がん |
p53 (mutation) [HSA:7157] [KO:K04451] p16/INK4A (mutation) [HSA:1029] [KO:K06621] K-ras (mutation) [HSA:3845] [KO:K07827] APC (mutation) [HSA:324] [KO:K02085] |
|
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] |
H00049 | 粘液様脂肪肉腫 | がん |
FUS-DDIT3 (translocation) [HSA:1649] [KO:K04452] EWSR1-DDIT3 (translocation) [HSA:1649] [KO:K04452] |
|
H00050 | 滑膜肉腫 | がん |
SYT-SSX1 (translocation) [HSA:6756] [KO:K15624] SYT-SSX2 (translocation) [HSA:6757] [KO:K15625] IGF-IR (overexpression) [HSA:3480] [KO:K05087] |
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H00051 | 胞巣状軟部肉腫 | がん | ASPSCR1-TFE3 (translocation) [HSA:79058 7030] [KO:K15627 K09105] | |
H00052 | 明細胞肉腫 | がん | EWSR1-ATF1 (translocation) [HSA:466] [KO:K09053] | |
H00053 | 粘液様軟骨肉腫 | がん |
EWSR1-NR4A3 (translocation) [HSA:8013] [KO:K08559] TAF15-NR4A3 (translocation) [HSA:8148] [KO:K14651] |
|
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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H00055 | 喉頭癌 | がん |
p53 (mutation) [HSA:7157] [KO:K04451] p16/INK4A (mutation, LOH, hypermethylation) [HSA:1029] [KO:K06621] Cyclin D1 (amplification) [HSA:595] [KO:K04503] EGFR (amplification) [HSA:1956] [KO:K04361] c-MYC (amplification) [HSA:4609] [KO:K04377] Cyclin E (amplification) [HSA:898 9134] [KO:K06626] |
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H00056 |
アルツハイマー病 アルツハイマー型認知症 |
神経変性疾患 | hsa05010 アルツハイマー病 |
(AD1) APP [HSA:351] [KO:K04520] (AD2) APOE [HSA:348] [KO:K04524] (AD3) PSEN1 [HSA:5663] [KO:K04505] (AD4) PSEN2 [HSA:5664] [KO:K04522] (AD9) ABCA7 [HSA:10347] [KO:K05645] (AD18) ADAM10 [HSA:102] [KO:K06704] |
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] (PARK19) DNAJC6 [HSA:9829] [KO:K09526] (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] (IDLDP) NR4A2 [HSA:4929] [KO:K08558] 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] |
H00059 | ハンチントン病 | 神経変性疾患 | hsa05016 ハンチントン病 | (HD) HTT (CAG repeat expansion) [HSA:3064] [KO:K04533] |
H00060 | 歯状核赤核淡蒼球ルイ体萎縮症 (DRPLA) | 神経変性疾患 | ATN1 (CAG repeat expansion) [HSA:1822] [KO:K05626] | |
H00061 | プリオン病 | 神経変性疾患 | hsa05020 プリオン病 | PRNP (mutation) [HSA:5621] [KO:K05634] |
H00062 |
球脊髄性筋萎縮症 (SBMA) ケネディ病 |
神経変性疾患 | (SMAX1) AR (CAG repeat expansion) [HSA:367] [KO:K08557] | |
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] (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] (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) 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] |
H00064 | 毛細血管拡張性運動失調症 | 免疫系疾患; 神経系疾患 | (AT) ATM [HSA:472] [KO:K04728] | |
H00065 | アレキサンダー病 | 神経変性疾患 | GFAP (mutation) [HSA:2670] [KO:K05640] | |
H00066 | レビー小体型認知症 | 神経変性疾患 |
SNCA (mutation, triplication) [HSA:6622] [KO:K04528] SNCB (mutation) [HSA:6620] [KO:K24201] LRRK2 (mutation) [HSA:120892] [KO:K08844] GBA (mutation) [HSA:2629] [KO:K01201] |
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H00067 | フリードライヒ運動失調症 | 神経変性疾患 | FXN (GAA repeat expansion) [HSA:2395] [KO:K19054] | |
H00068 |
レーベル遺伝性視神経症 レーバー遺伝性視神経萎縮症 |
神経系疾患 |
ND1 [HSA:4535] [KO:K03878] ND2 [HSA:4536] [KO:K03879] ND4 [HSA:4538] [KO:K03881] ND4L [HSA:4539] [KO:K03882] ND5 [HSA:4540] [KO:K03883] ND6 [HSA:4541] [KO:K03884] CYTB [HSA:4519] [KO:K00412] COX1 [HSA:4512] [KO:K02256] COX3 [HSA:4514] [KO:K02262] ATP6 [HSA:4508] [KO:K02126] |
|
H00069 | 糖原病 | 先天性代謝異常症 |
(GSD1A) G6PC1 [HSA:2538] [KO:K01084] (GSD1B/1C) SLC37A4 [HSA:2542] [KO:K08171] (GSD2) GAA [HSA:2548] [KO:K12316] (GSD3) AGL [HSA:178] [KO:K01196] (GSD4) GBE1 [HSA:2632] [KO:K00700] (GSD5) PYGM [HSA:5837] [KO:K00688] (GSD6) PYGL [HSA:5836] [KO:K00688] (GSD7) PFKM [HSA:5213] [KO:K00850] (GSD9A) PHKA2 [HSA:5256] [KO:K07190] (GSD9B) PHKB [HSA:5257] [KO:K07190] (GSD9C) PHKG2 [HSA:5261] [KO:K00871] (GSD9D) PHKA1 [HSA:5255] [KO:K07190] (GSD10) PGAM2 [HSA:5224] [KO:K01834] (GSDXI/FBS) SLC2A2 [HSA:6514] [KO:K07593] (GSD11) LDHA [HSA:3939] [KO:K00016] (GSD12) ALDOA [HSA:226] [KO:K01623] (GSD13) ENO3 [HSA:2027] [KO:K01689] (GSD14) PGM1 [HSA:5236] [KO:K01835] (GSD15) GYG1 [HSA:2992] [KO:K00750] (GSDH) PRKAG2 [HSA:51422] [KO:K07200] (GSD0A) GYS2 [HSA:2998] [KO:K00693] (GSD0B) GYS1 [HSA:2997] [KO:K00693] |
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H00070 | ガラクトース血症 | 先天性代謝異常症 |
(GALAC1) GALT [HSA:2592] [KO:K00965] (GALAC2) GALK1 [HSA:2584] [KO:K00849] (GALAC3) GALE [HSA:2582] [KO:K01784] (GALAC4) GALM [HSA:130589] [KO:K01785] |
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H00071 | フルクトース血症 | 先天性代謝異常症 | ALDOB [HSA:229] [KO:K01623] | |
H00072 | ピルビン酸脱水素酵素複合体欠損症 | 先天性代謝異常症 |
(PDHAD) PDHA1 [HSA:5160] [KO:K00161] (PDHBD) PDHB [HSA:5162] [KO:K00162] (PDHDD) DLAT [HSA:1737] [KO:K00627] (PDHPD) PDP1 [HSA:54704] [KO:K01102] (PDHXD) PDHX [HSA:8050] [KO:K13997] (DLDD) DLD [HSA:1738] [KO:K00382] |
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H00073 | ピルビン酸カルボキシラーゼ欠損症 | 先天性代謝異常症 | PC [HSA:5091] [KO:K01958] | |
H00074 | カナバン病 | 先天性代謝異常症 | ASPA [HSA:443] [KO:K01437] | |
H00075 |
レフスム病 多発神経炎型遺伝性失調症 |
先天性代謝異常症, ペルオキシソーム病 |
PHYH [HSA:5264] [KO:K00477] PEX7 [HSA:5191] [KO:K13341] |
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H00076 | コケイン症候群 | 神経変性疾患 |
(CSA) ERCC8 [HSA:1161] [KO:K10570] (CSB) ERCC6 [HSA:2074] [KO:K10841] (XPB/CS) ERCC3 [HSA:2071] [KO:K10843] (XPF/CS) ERCC4 [HSA:2072] [KO:K10848] (XPG/CS) ERCC5 [HSA:2073] [KO:K10846] |
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H00077 | 進行性核上性麻痺 | 神経変性疾患 | (PSNP1) MAPT [HSA:4137] [KO:K04380] | |
H00078 | 前頭側頭葉変性症 | 神経変性疾患 |
(Pick disease/ FTD) MAPT [HSA:4137] [KO:K04380] (Pick disease/ FTD) PSEN1 [HSA:5663] [KO:K04505] (FTLDU) GRN [HSA:2896] [KO:K23879] |
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H00079 | 喘息 | 免疫系疾患 | hsa05310 喘息 |
IL4 [HSA:3565] [KO:K05430] IL4RA [HSA:3566] [KO:K05071] IL13 [HSA:3596] [KO:K05435] FCER1B [HSA:2206] [KO:K08090] TNFA [HSA:7124] [KO:K03156] ADAM33 [HSA:80332] [KO:K08616] CD14 [HSA:929] [KO:K04391] HLA-DRB1 [HSA:3123] [KO:K06752] HLA-DQB1 [HSA:3119] [KO:K06752] HLA-G [HSA:3135] [KO:K06751] ADRB2 [HSA:154] [KO:K04142] ALOX5 [HSA:240] [KO:K00461] CCL11 [HSA:6356] [KO:K16597] MUC7 [HSA:4589] [KO:K13909] PLA2G7 [HSA:7941] [KO:K01062] SCGB3A2 [HSA:117156] [KO:K25469] (ASRT1) PTGDR [HSA:5729] [KO:K04332] (ASRT2) NPSR1 [HSA:387129] [KO:K08376] (ASRT5) IRAK3 [HSA:11213] [KO:K04732] (ASRT7) CHI3L1 [HSA:1116] [KO:K17523] |
H00080 | 全身性エリテマトーデス | 免疫系疾患 | hsa05322 全身性エリテマトーデス |
(SLE) PTPN22 [HSA:26191] [KO:K18024] (SLE) FCGR2A [HSA:2212] [KO:K06472] (SLE) FCGR2B [HSA:2213] [KO:K12560] (SLE) CTLA4 [HSA:1493] [KO:K06538] (SLE) TREX1 [HSA:11277] [KO:K10790] (SLE) DNASE1 [HSA:1773] [KO:K11994] (SLEB1) TLR5 [HSA:7100] [KO:K10168] (SLEB2) PDCD1 [HSA:5133] [KO:K06744] (SLEB9) CR2 [HSA:1380] [KO:K04012] (SLEB10) IRF5 [HSA:3663] [KO:K09446] (SLEB11) STAT4 [HSA:6775] [KO:K11222] (SLEB16) DNASE1L3 [HSA:1776] [KO:K11995] (SLEB17) TLR7 [HSA:51284] [KO:K05404] HLA-DRB1 [HSA:3123] [KO:K06752] HLA-DQA1 [HSA:3117] [KO:K06752] HLA-DQB1 [HSA:3119] [KO:K06752] C2 [HSA:717] [KO:K01332] C4A [HSA:720] [KO:K03989] TNF [HSA:7124] [KO:K03156] FCGR3A [HSA:2214] [KO:K06463] FCGR3B [HSA:2215] [KO:K06463] CRP [HSA:1401] [KO:K16143] ZNF423 [HSA:23090] [KO:K22870] |
[ KEGG | KEGG DRUG | KEGG MEDICUS ] |