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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H01164 | Paracoccus yeei 感染 | 細菌感染症 | ||
H01165 | Novosphingobium aromaticivorans 感染 | 細菌感染症 | ||
H01166 | Sphingomonas paucimobilis 感染 | 細菌感染症 | ||
H01167 | Granulibacter 感染 | 細菌感染症 |
CYBB (Chronic granulomatous disease) [HSA:1536] [KO:K21421] CYBA (Chronic granulomatous disease) [HSA:1535] [KO:K08009] NCF1 (Chronic granulomatous disease) [HSA:653361] [KO:K08011] |
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H01168 | 海青組織球病 | 先天性代謝異常症 | APOE [HSA:348] [KO:K04524] | |
H01169 | Acetobacter 感染 | 細菌感染症 | ||
H01170 | シャルルヴォア・サグエ型痙性失調症 | 神経系疾患 | SACS [HSA:26278] [KO:K17592] | |
H01171 | Poor drug metabolism | 先天性代謝異常症 |
CYP2C19 [HSA:1557] [KO:K17721] CYP2D6 [HSA:1565] [KO:K17712] |
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H01172 | 乳児期発症上行性遺伝性痙性対麻痺 | 神経系疾患 | ALS2 [HSA:57679] [KO:K04575] | |
H01173 | Stiff skin syndrome | 皮膚疾患 | FBN1 [HSA:2200] [KO:K06825] | |
H01174 | 先天性下痢症 | 消化器系疾患 |
(DIAR1) SLC26A3 [HSA:1811] [KO:K14078] (DIAR2/MVID1) MYO5B [HSA:4645] [KO:K10357] (DIAR3) SPINT2 [HSA:10653] [KO:K23421] (DIAR4) NEUROG3 [HSA:50674] [KO:K08028] (DIAR5) EPCAM [HSA:4072] [KO:K06737] (DIAR6) GUCY2C [HSA:2984] [KO:K12320] (DIAR7) DGAT1 [HSA:8694] [KO:K11155] (DIAR8) SLC9A3 [HSA:6550] [KO:K12040] (DIAR9) WNT2B [HSA:7482] [KO:K00182] (DIAR10) PLVAP [HSA:83483] [KO:K17309] (DIAR11) PERCC1 [HSA:105371045] (DIAR12/MVID2) STX3 [HSA:6809] [KO:K08486] (DIAR13) ACSL5 [HSA:51703] [KO:K01897] (DIAR14) GRWD1 [HSA:83743] [KO:K14848] (DIAR15) MYO1A [HSA:4640] [KO:K10356] |
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H01175 | ブドウ球菌感染症 | 細菌感染症 | ||
H01176 | 単純性尿路感染 | 細菌感染症 | ||
H01177 | 乳児両側性線条体壊死 | 神経系疾患 |
NUP62 [HSA:23636] [KO:K14306] MT-ATP6 [HSA:4508] [KO:K02126] |
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H01178 | ハエ幼虫症 | 寄生虫感染症 | ||
H01179 | スナノミ症 | 寄生虫感染症 | ||
H01180 |
Sveinsson 網脈絡膜萎縮 らせん状乳頭周囲脈絡網膜変性 |
神経系疾患 | TEAD1 [HSA:7003] [KO:K09448] | |
H01181 | T-細胞免疫不全症先天性脱毛および爪ジストロフィー | 免疫系疾患 | FOXN1 [HSA:8456] [KO:K09407] | |
H01182 | ビオチニダーゼ欠損症 | 先天性代謝異常症 | BTD [HSA:686] [KO:K01435] | |
H01183 |
ビタミン B1 反応性巨赤芽球性貧血症 チアミン代謝異常症候群 1 |
先天性代謝異常症 | SLC19A2 [HSA:10560] [KO:K14610] | |
H01184 | 家族性認知症 | 神経変性疾患 | ITM2B [HSA:9445] [KO:K18264] | |
H01185 | 脳アミロイド血管症 | 神経変性疾患 |
CST3 [HSA:1471] [KO:K13899] APP [HSA:351] [KO:K04520] |
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H01186 | 甲状腺ホルモン代謝異常症 | 内分泌代謝疾患 |
(THMA1) SECISBP2 [HSA:79048] [KO:K19539] (THMA2) DIO1 [HSA:1733] [KO:K01562] |
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H01187 |
Tietz 症候群 白皮症・難聴症候群 |
皮膚疾患 | MITF [HSA:4286] [KO:K09455] | |
H01188 | Tn 症候群 | 血液疾患 | COSMC [HSA:29071] [KO:K09653] | |
H01189 | トランスアルドラーゼ欠乏症 | 先天性代謝異常症 | TALDO1 [HSA:6888] [KO:K00616] | |
H01190 | トランスコバラミン II 欠乏症 | 先天性代謝異常症 | TCN2 [HSA:6948] [KO:K14619] | |
H01191 | 鼻茸を伴うアスピリン喘息 | 免疫系疾患 |
TBX21 [HSA:30009] [KO:K10166] PTGER2 [HSA:5732] [KO:K04259] |
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H01192 | リジルヒドロキシラーゼ3 欠損症 | 先天奇形 | PLOD3 [HSA:8985] [KO:K13646] | |
H01193 | 家族性腫瘍状石灰化症 | 先天性代謝異常症 |
(HFTC1) GALNT3 [HSA:2591] [KO:K00710] (HFTC2) FGF23 [HSA:8074] [KO:K22428] (HFTC3) KL [HSA:9365] [KO:K14756] (NFTC) SAMD9 [HSA:54809] [KO:K23949] |
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H01194 | X連鎖性点状軟骨異形成症 | 先天奇形 |
(CDPX1) ARSL [HSA:415] [KO:K18222] (CDPX2) EBP [HSA:10682] [KO:K01824] |
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H01195 | VATER/VACTERL連合 | 先天奇形 |
PTEN [HSA:5728] [KO:K01110] HOXD13 [HSA:3239] [KO:K09298] (VACTERLX) ZIC3 [HSA:7547] [KO:K18487] (VCTERL) WBP11 [HSA:51729] [KO:K12866] |
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H01196 | 小球性低色素性貧血 | 血液疾患 |
(AHMIO1) SLC11A2 [HSA:4891] [KO:K21398] (AHMIO2) STEAP3 [HSA:55240] [KO:K10142] |
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H01197 | ジヒドロ葉酸還元酵素欠損症 | 先天性代謝異常症 | DHFR [HSA:1719] [KO:K00287] | |
H01198 | 腎ファンコニー症候群 | 先天性代謝異常症 |
(FRTS1) GATM [HSA:2628] [KO:K00613] (FRTS2) SLC34A1 [HSA:6569] [KO:K14683] (FRTS3) EHHADH [HSA:1962] [KO:K07514] (FRTS4) HNF4A [HSA:3172] [KO:K07292] (FRTS5) NDUFAF6 [HSA:137682] [KO:K18163] |
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H01199 | 高アルファリポタンパク質血症 | 先天性代謝異常症 |
(HALP1) CETP [HSA:1071] [KO:K16835] (HALP2) APOC3 [HSA:345] [KO:K08759] |
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H01200 | 致死性乳児心臓脳筋症 | 先天性代謝異常症 |
(CEMCOX1) SCO2 [HSA:9997] [KO:K23755] (CEMCOX2) COX15 [HSA:1355] [KO:K02259] (CEMCOX3) COA5 [HSA:493753] [KO:K18178] (CEMCOX4) COA6 [HSA:388753] [KO:K18179] |
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H01201 | イェンセン症候群 | 先天性代謝異常症, ミトコンドリア病 | TIMM8A [HSA:1678] [KO:K17780] | |
H01202 | 白内障 | 神経系疾患 |
(CTRCT1) GJA8 [HSA:2703] [KO:K07617] (CTRCT2) CRYGC [HSA:1420] [KO:K23483] (CTRCT3) CRYBB2 [HSA:1415] [KO:K23482] (CTRCT4) CRYGD [HSA:1421] [KO:K23483] (CTRCT5) HSF4 [HSA:3299] [KO:K09417] (CTRCT6) EPHA2 [HSA:1969] [KO:K05103] (CTRCT9) CRYAA [HSA:1409] [KO:K09541] (CTRCT10) CRYBA1 [HSA:1411] [KO:K23482] (CTRCT11) PITX3 [HSA:5309] [KO:K09357] (CTRCT12) BFSP2 [HSA:8419] [KO:K10379] (CTRCT13) GCNT2 [HSA:2651] [KO:K00742] (CTRCT14) GJA3 [HSA:2700] [KO:K07612] (CTRCT15) MIP [HSA:4284] [KO:K09863] (CTRCT16) CRYAB [HSA:1410] [KO:K09542] (CTRCT17) CRYBB1 [HSA:1414] [KO:K23482] (CTRCT18) FYCO1 [HSA:79443] [KO:K21954] (CTRCT19) LIM2 [HSA:3982] [KO:K24190] (CTRCT20) CRYGS [HSA:1427] [KO:K23483] (CTRCT21) MAF [HSA:4094] [KO:K09035] (CTRCT22) CRYBB3 [HSA:1417] [KO:K23482] (CTRCT23) CRYBA4 [HSA:1413] [KO:K23482] (CTRCT30) VIM [HSA:7431] [KO:K07606] (CTRCT31) CHMP4B [HSA:128866] [KO:K12194] (CTRCT33) BFSP1 [HSA:631] [KO:K10378] (CTRCT34) FOXE3 [HSA:2301] [KO:K09398] (CTRCT36) TDRD7 [HSA:23424] [KO:K18405] (CTRCT38) AGK [HSA:55750] [KO:K09881] (CTRCT39) CRYGB [HSA:1419] [KO:K23483] (CTRCT40) NHS [HSA:4810] [KO:K24144] (CTRCT41) WFS1 [HSA:7466] [KO:K14020] (CTRCT42) CRYBA2 [HSA:1412] [KO:K23482] (CTRCT43) UNC45B [HSA:146862] [KO:K21991] (CTRCT44) LSS [HSA:4047] [KO:K01852] (CTRCT45) SIPA1L3 [HSA:23094] [KO:K17703] (CTRCT46) LEMD2 [HSA:221496] [KO:K24080] (CTRCT47) SLC16A12 [HSA:387700] [KO:K11810] (CTRCT48) DNMBP [HSA:23268] [KO:K20705] (CTRCT49) PANK4 [HSA:55229] [KO:K24265] (CTRCT50) TRPM3 [HSA:80036] [KO:K04978] |
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H01203 |
先天性緑内障 緑内障 3 型 |
先天奇形 |
(GLC3A) CYP1B1 [HSA:1545] [KO:K07410] (GLC3D) LTBP2 [HSA:4053] [KO:K08023] (GLC3E) TEK [HSA:7010] [KO:K05121] |
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