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 |
|---|---|---|---|---|
| H01887 | 3MC 症候群 | 先天奇形 |
(3MC1) MASP1 [HSA:5648] [KO:K03992] (3MC2) COLEC11 [HSA:78989] [KO:K10066] (3MC3) COLEC10 [HSA:10584] [KO:K10065] |
|
| H01888 | カーペンター症候群 | 先天奇形 |
(CRPT1) RAB23 [HSA:51715] [KO:K06234] (CRPT2) MEGF8 [HSA:1954] [KO:K23664] |
|
| H01889 |
Meier-Gorlin 症候群 耳-膝蓋-低身長症候群 |
先天奇形 |
(MGORS1) ORC1 [HSA:4998] [KO:K02603] (MGORS2) ORC4 [HSA:5000] [KO:K02606] (MGORS3) ORC6 [HSA:23594] [KO:K02608] (MGORS4) CDT1 [HSA:81620] [KO:K10727] (MGORS5) CDC6 [HSA:990] [KO:K02213] (MGORS6) GMNN [HSA:51053] [KO:K10749] (MGORS7) CDC45 [HSA:8318] [KO:K06628] (MGORS8) MCM5 [HSA:4174] [KO:K02209] |
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| H01890 | 模様黄斑ジストロフィー | 神経系疾患 |
(MDPT1) PRPH2 [HSA:5961] [KO:K17343] (MDPT2) CTNNA1 [HSA:1495] [KO:K05691] (MDPT3) MAPKAPK3 [HSA:7867] [KO:K04444] |
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| H01891 | 常染色体劣性遺伝性脊髄小脳失調症 | 神経変性疾患 |
(SCAR1/SCAN2) SETX [HSA:23064] [KO:K10706] (SCAR2) PMPCA [HSA:23203] [KO:K01412] (SCAR4) VPS13D [HSA:55187] [KO:K19527] (SCAR7) TPP1 [HSA:1200] [KO:K01279] (SCAR8) SYNE1 [HSA:23345] [KO:K19326] (SCAR9) COQ8A [HSA:56997] [KO:K08869] (SCAR10) ANO10 [HSA:55129] [KO:K19327] (SCAR11) SYT14 [HSA:255928] [KO:K19328] (SCAR12) WWOX [HSA:51741] [KO:K19329] (SCAR13) GRM1 [HSA:2911] [KO:K04603] (SCAR14) SPTBN2 [HSA:6712] [KO:K23932] (SCAR15) RUBCN [HSA:9711] [KO:K19330] (SCAR16) STUB1 [HSA:10273] [KO:K09561] (SCAR17) CWF19L1 [HSA:55280] [KO:K24939] (SCAR18) GRID2 [HSA:2895] [KO:K05207] (SCAR19) SLC9A1 [HSA:6548] [KO:K05742] (SCAR20) SNX14 [HSA:57231] [KO:K17926] (SCAR21) SCYL1 [HSA:57410] [KO:K08876] (SCAR22) VWA3B [HSA:200403] [KO:K24509] (SCAR23) TDP2 [HSA:51567] [KO:K19619] (SCAR24) UBA5 [HSA:79876] [KO:K12164] (SCAR25) ATG5 [HSA:9474] [KO:K08339] (SCAR26) XRCC1 [HSA:7515] [KO:K10803] (SCAR27) GDAP2 [HSA:54834] [KO:K24997] (SCAR28) THG1L [HSA:54974] [KO:K10761] (SCAR29) VPS41 [HSA:27072] [KO:K20184] (SCAR30) PITRM1 [HSA:10531] [KO:K06972] (SCAR31) ATG7 [HSA:10533] [KO:K08337] (SCAR32) PRDX3 [HSA:10935] [KO:K20011] (SCAR33) RNU12 [HSA:267010] [KO:K28310] (SCAN1) TDP1 [HSA:55775] [KO:K10862] (SCAN3) COA7 [HSA:65260] [KO:K18180] |
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| H01892 | 末梢性T細胞リンパ腫 | がん |
NPM-ALK (translocation) [HSA:238] [KO:K05119] DUSP22-IRF4 (translocation) [HSA:56940] [KO:K14165] TET2 (mutation) [HSA:54790] [KO:K24309] DNMT3A (mutation) [HSA:1788] [KO:K17398] IDH1 (mutation) [HSA:3417] [KO:K00031] IDH2 (mutation) [HSA:3418] [KO:K00031] |
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| H01893 | 側方髄膜瘤症候群 | 先天奇形 | NOTCH3 [HSA:4854] [KO:K20995] | |
| H01894 | 多発性ミトコンドリア機能障害症候群 | 先天性代謝異常症, ミトコンドリア病 |
(MMDS1) NFU1 [HSA:27247] [KO:K22074] (MMDS2) BOLA3 [HSA:388962] [KO:K22075] (MMDS3) IBA57 [HSA:200205] [KO:K22073] (MMDS4) ISCA2 [HSA:122961] [KO:K22072] (MMDS5) ISCA1 [HSA:81689] [KO:K22063] (MMDS6) PMPCB [HSA:9512] [KO:K17732] (MMDS7) GCSH [HSA:2653] [KO:K02437] (MMDS9B) FDXR [HSA:2232] [KO:K18914] (MMDS10) CIAO1 [HSA:9391] [KO:K24730] |
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| H01895 | 注意欠陥多動障害 (ADHD) | 精神及び行動の障害 |
(ADHD) DRD5 [HSA:1816] [KO:K05840] (ADHD) DRD4 [HSA:1815] [KO:K04147] (ADHD7) TPH2 [HSA:121278] [KO:K00502] (ADHD8) CDH2 [HSA:1000] [KO:K06736] |
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| H01896 | 先天性皮膚欠損 | 先天奇形 | BMS1 [HSA:9790] [KO:K14569] | |
| H01897 | 卵母細胞/受精卵/胚成熟停止 | 生殖器系疾患 |
(OZEMA1) ZP1 [HSA:22917] [KO:K19926] (OZEMA2) TUBB8 [HSA:347688] [KO:K07375] (OZEMA3) ZP3 [HSA:7784] [KO:K19928] (OZEMA4) PATL2 [HSA:197135] [KO:K24823] (OZEMA5) WEE2 [HSA:494551] [KO:K06632] (OZEMA6) ZP2 [HSA:7783] [KO:K19927] (OZEMA7) PANX1 [HSA:24145] [KO:K03443] (OZEMA8) BTG4 [HSA:54766] [KO:K14443] (OZEMA9) TRIP13 [HSA:9319] [KO:K22399] (OZEMA10) REC114 [HSA:283677] [KO:K26084] (OZEMA11) ASTL [HSA:431705] [KO:K08778] (OZEMA12) FBXO43 [HSA:286151] [KO:K10318] (OZEMA13) ZFP36L2 [HSA:678] [KO:K18753] (OZEMA14) CDC20 [HSA:991] [KO:K03363] (OZEMA15) TLE6 [HSA:79816] [KO:K04497] (OZEMA16) PADI6 [HSA:353238] [KO:K01481] (OZEMA17) KPNA7 [HSA:402569] [KO:K15043] (OZEMA18) NLRP2 [HSA:55655] [KO:K19409] (OZEMA19) NLRP5 [HSA:126206] [KO:K22626] (OZEMA20) MOS [HSA:4342] [KO:K04367] (OZEMA21) CHEK1 [HSA:1111] [KO:K02216] (OZEMA22) PABPC1L [HSA:80336] [KO:K13126] (OZEMA23) TUBA4A [HSA:7277] [KO:K07374] (OZEMA24) TUBA1C [HSA:84790] [KO:K07374] |
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| H01898 | PNPLA6 関連疾患 | 神経系疾患 | PNPLA6 [HSA:10908] [KO:K14676] | |
| H01899 | 読字障害 | 精神及び行動の障害 |
(DYX1) DNAAF4 [HSA:161582] [KO:K19758] (DYX2) AAVR [HSA:9856] [KO:K24403] |
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| H01900 | ミトコンドリアおよびペルオキシソームの分裂異常による脳症 | 先天性代謝異常症 |
DNM1L [HSA:10059] [KO:K17065] MFF [HSA:56947] [KO:K22076] |
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| H01901 | バレット食道 | 消化器系疾患 |
MSR1 [HSA:4481] [KO:K06558] CTHRC1 [HSA:115908] [KO:K25700] ASCC1 [HSA:51008] [KO:K18666] |
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| H01902 | 脆弱角膜症候群 | 先天奇形 |
(BCS1) ZNF469 [HSA:84627] [KO:K27861] (BCS2) PRDM5 [HSA:11107] [KO:K22534] |
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| H01903 | Brown-Vialetto-Van Laere 症候群 | 神経変性疾患 |
(BVVLS1) SLC52A3 [HSA:113278] [KO:K14620] (BVVLS2) SLC52A2 [HSA:79581] [KO:K22117] |
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| H01904 |
線状皮膚欠損を伴う小眼球症 多発性先天奇形を伴う線状皮膚欠損 MIDAS 症候群 |
先天奇形 |
(LSDMCA1) HCCS [HSA:3052] [KO:K01764] (LSDMCA2) COX7B [HSA:1349] [KO:K02271] (LSDMCA3) NDUFB11 [HSA:54539] [KO:K11351] |
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| H01905 | 長睫毛症 | 皮膚疾患 | FGF5 [HSA:2250] [KO:K04358] | |
| H01906 | 腱性拘縮・ミオパチー・肺線維症を伴う遺伝性線維化多形皮膚萎縮症 | 先天奇形 | FAM111B [HSA:374393] [KO:K24275] | |
| H01907 | 酸不安定サブユニット欠損症 | 内分泌代謝疾患 | IGFALS [HSA:3483] [KO:K17256] | |
| H01908 | Carey‐Fineman‐Ziter 症候群 | 先天奇形 |
(CFZS1) MYMK [HSA:389827] [KO:K24577] (CFZS2) MYMX [HSA:101929726] [KO:K24578] |
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| H01909 | Hypoinsulinemic hypoglycemia with hemihypertrophy | 先天性代謝異常症 | AKT2 [HSA:208] [KO:K04456] | |
| H01910 | 乳児筋線維腫症 | 新生物 |
(IMF1) PDGFRB [HSA:5159] [KO:K05089] (IMF2) NOTCH3 [HSA:4854] [KO:K20995] |
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| H01911 | 常染色体劣性精神遅滞症候群 | 精神及び行動の障害 |
(MRT34) CRADD [HSA:8738] [KO:K02832] (MRAMS) SOBP [HSA:55084] [KO:K27304] |
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| H01912 | CLOVE 症候群 | 先天奇形 | PIK3CA [HSA:5290] [KO:K00922] | |
| H01913 | レンペニング症候群 | 先天奇形 | PQBP1 [HSA:10084] [KO:K12865] | |
| H01914 | クリスチャンソン症候群 | 先天奇形 | SLC9A6 [HSA:10479] [KO:K12041] | |
| H01915 | Borjeson-Forssman-Lehmann 症候群 | 先天奇形 | PHF6 [HSA:84295] [KO:K23310] | |
| H01916 | Stocco dos Santos X連鎖性精神遅滞症候群 | 先天奇形 | SHROOM4 [HSA:57477] [KO:K18625] | |
| H01917 | CK 症候群 | 先天奇形 | NSDHL [HSA:50814] [KO:K07748] | |
| H01918 | 常染色体劣性遺伝性高コレステロール血症 | 先天性代謝異常症 | LDLRAP1 [HSA:26119] [KO:K12474] | |
| H01919 | Proud 症候群 | 先天奇形 | ARX [HSA:170302] [KO:K09452] | |
| H01920 | Partington 症候群 | 神経系疾患 | ARX [HSA:170302] [KO:K09452] | |
| H01921 | MICPCH 症候群 | 先天奇形 | CASK [HSA:8573] [KO:K06103] | |
| H01922 | 精神運動遅滞と特徴的顔貌を伴う小児筋緊張低下 | 先天奇形 |
(IHPRF1) NALCN [HSA:259232] [KO:K21863] (IHPRF2) UNC80 [HSA:285175] [KO:K24015] (IHPRF3) TBCK [HSA:93627] [KO:K17544] (IHPMR) CCDC174 [HSA:51244] [KO:K25178] |
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| H01923 | 小頭症・低身長・グルコース代謝異常 | 先天奇形 |
(MSSGM1) TRMT10A [HSA:93587] [KO:K15445] (MSSGM2) PPP1R15B [HSA:84919] [KO:K17558] |
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| H01924 |
シデナム舞踏病 小舞踏病 |
免疫系疾患; 神経系疾患 | ||
| H01925 | 一過性乳児亜鉛欠乏症 | 先天性代謝異常症 | SLC30A2 [HSA:7780] [KO:K14689] | |
| H01926 | 心室中隔欠損症 | 循環器系疾患 |
(VSD1) GATA4 [HSA:2626] [KO:K09183] (VSD2) CITED2 [HSA:10370] [KO:K21361] (VSD3) NKX2-5 [HSA:1482] [KO:K09345] |
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