KEGG MEDICUS 医薬品情報

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2928 件中 1241 〜 1280 を表示 前へ 1 ... 27 28 29 30 31 32 33 34 35 36 37 ... 74 次へ
エントリ 名称 カテゴリ パスウェイ 病因遺伝子
H01244 T+B+ 重症複合免疫不全症 原発性免疫不全症 RAG-1 [HSA:5896] [KO:K10628]
H01245 外胚葉異形成症を伴わない免疫不全症 原発性免疫不全症 IKBKG [HSA:8517] [KO:K07210]
H01246 非症候群性先天性ばち指 先天奇形 HPGD [HSA:3248] [KO:K00069]
H01247 ピリドキシン依存性てんかん 神経系疾患 ALDH7A1 [HSA:501] [KO:K14085]
H01248 MCT1 欠損症 先天性代謝異常症 SLC16A1 [HSA:6566] [KO:K08179]
H01249 エチルマロン酸脳症 先天性代謝異常症 ETHE1 [HSA:23474] [KO:K17725]
H01250 遺伝性歯肉増殖症 消化器系疾患 (GINGF1) SOS1 [HSA:6654] [KO:K03099]
(GINGF5) REST [HSA:5978] [KO:K09222]
(GINGF6) ZNF862 [HSA:643641] [KO:K28074]
H01251 限局性皮質異形成 II 型 先天奇形 MTOR [HSA:2475] [KO:K07203]
TSC1 [HSA:7248] [KO:K07206]
TSC2 [HSA:7249] [KO:K07207]
H01252 先天性葉酸吸収不全 先天性代謝異常症 SLC46A1 [HSA:113235] [KO:K14613]
H01253 卵胞刺激ホルモン単独欠損症 内分泌代謝疾患 FSHB [HSA:2488] [KO:K05250]
H01254 プロトロンビン欠乏症 血液疾患 F2 [HSA:2147] [KO:K01313]
H01255 若年発症型ジストニー
Dystonia-deafness syndrome 1 		先天奇形 ACTB [HSA:60] [KO:K05692]
H01256 中心窩低形成 神経系疾患 (FVH1) PAX6 [HSA:5080] [KO:K08031]
(FVH2) SLC38A8 [HSA:146167] [KO:K14994]
(FVH3) AHR [HSA:196] [KO:K09093]
H01257 GABA トランスアミナーゼ欠損症 先天性代謝異常症 ABAT [HSA:18] [KO:K13524]
H01258 全般てんかん及び発作性ジスキネジア 神経系疾患 KCNMA1 [HSA:3778] [KO:K04936]
H01259 巨大軸索性ニューロパチー 神経変性疾患 (GAN1) GAN [HSA:8139] [KO:K10453]
(GAN2) DCAF8 [HSA:50717] [KO:K11804]
H01260 フィブロネクチン腎症 泌尿器系疾患 FN1 [HSA:2335] [KO:K05717]
H01261 先天性グルコース・ガラクトース吸収不全症 先天性代謝異常症 SLC5A1 [HSA:6523] [KO:K14158]
H01262 ホルムイミノトランスフェラーゼ欠損症 先天性代謝異常症 FTCD [HSA:10841] [KO:K13990]
H01263 進行性心臓伝導障害
進行性家族性心臓ブロック 		循環器系疾患 (PFHB1A) SCN5A [HSA:6331] [KO:K04838]
(PFHB1B) TRPM4 [HSA:54795] [KO:K04979]
H01264 免疫不全を伴う肝静脈閉塞性疾患 免疫系疾患 SP110 [HSA:3431] [KO:K24503]
H01265 Hydrolethalus 症候群 先天奇形 (HLS1) HYLS1 [HSA:219844] [KO:K16472]
(HLS2) KIF7 [HSA:374654] [KO:K18806]
H01266 高カロチン血症およびビタミン A 欠乏症 先天性代謝異常症 BCMO1 [HSA:53630] [KO:K00515]
H01267 家族性高インスリン性低血糖症 先天性代謝異常症 (HHF1/ LIH) ABCC8 [HSA:6833] [KO:K05032]
(HHF2) KCNJ11 [HSA:3767] [KO:K05004]
(HHF3) GCK [HSA:2645] [KO:K12407]
(HHF4) HADH [HSA:3033] [KO:K00022]
(HHF5) INSR [HSA:3643] [KO:K04527]
(HHF6) GLUD1 [HSA:2746] [KO:K00261]
(HHF7) SLC16A1 [HSA:6566] [KO:K08179]
(HHF8) SLC25A36 [HSA:55186] [KO:K15116]
H01268 HHH症候群
高オルニチン血症・高アンモニア血症・ホモシトルリン尿症 		先天性代謝異常症 SLC25A15 [HSA:10166] [KO:K15101]
H01269 先天性甲状腺機能亢進症 内分泌代謝疾患 TSHR [HSA:7253] [KO:K04249]
H01270 家族性低βリポタンパク血症 先天性代謝異常症 (FHBL1) APOB [HSA:338] [KO:K14462]
(FHBL2) ANGPTL3 [HSA:27329] [KO:K22288]
H01271 HDR症候群 先天奇形 GATA3 [HSA:2625] [KO:K17895]
H01272 左心低形成症候群 先天奇形 GJA1 [HSA:2697] [KO:K07372]
NKX2-5 [HSA:1482] [KO:K09345]
HAND1 [HSA:9421] [KO:K09071]
H01273 常染色体優性遺伝性角膜炎 神経系疾患 PAX6 [HSA:5080] [KO:K08031]
H01274 IGF-I resistance 内分泌代謝疾患 IGF1R [HSA:3480] [KO:K05087]
H01275 インターロイキン1レセプターアンタゴニスト欠損症 免疫系疾患 IL1RN [HSA:3557] [KO:K05481]
H01276 慢性特発性偽性腸閉塞症 消化器系疾患 FLNA [HSA:2316] [KO:K04437]
H01277 ビタミン B12 欠乏性貧血 血液疾患 (IGS1) CUBN [HSA:8029] [KO:K14616]
(IGS2) AMN [HSA:81693] [KO:K18259]
(IFD) CBLIF [HSA:2694] [KO:K14615]
H01278 鉄剤不応性鉄欠乏性貧血 血液疾患 TMPRSS6 [HSA:164656] [KO:K09637]
H01279 イソブチリルCoA脱水素酵素欠損症 先天性代謝異常症 ACAD8 [HSA:27034] [KO:K11538]
H01280 L-2-ヒドロキシグルタル酸尿症 先天性代謝異常症 L2HGDH [HSA:79944] [KO:K00109]
H01281 Lathosterolosis 先天性代謝異常症 (LATHOS) SC5D [HSA:6309] [KO:K00227]
H01282 精子形成異常 生殖器系疾患 (SPGF1) SYCP2 [HSA:10388] [KO:K19529]
(SPGF2) MSH4 [HSA:4438] [KO:K08740]
(SPGF3) SLC26A8 [HSA:116369] [KO:K14705]
(SPGF4) SYCP3 [HSA:50511] [KO:K19528]
(SPGF5) AURKC [HSA:6795] [KO:K11480]
(SPGF6) SPATA16 [HSA:83893] [KO:K26121]
(SPGF7) CATSPER1 [HSA:117144] [KO:K16889]
(SPGF8) NR5A1 [HSA:2516] [KO:K08560]
(SPGF9) DPY19L2 [HSA:283417] [KO:K24553]
(SPGF10) SEPTIN12 [HSA:124404] [KO:K16938]
(SPGF11) KLHL10 [HSA:317719] [KO:K10448]
(SPGF12) NANOS1 [HSA:340719] [KO:K18741]
(SPGF13) TAF4B [HSA:6875] [KO:K03129]
(SPGF14) ZMYND15 [HSA:84225] [KO:K24081]
(SPGF15) SYCE1 [HSA:93426] [KO:K19534]
(SPGF16) SUN5 [HSA:140732] [KO:K21876]
(SPGF17) PLCZ1 [HSA:89869] [KO:K05861]
(SPGF18) DNAH1 [HSA:25981] [KO:K10408]
(SPGF19) CFAP43 [HSA:80217] [KO:K24223]
(SPGF20) CFAP44 [HSA:55779] [KO:K24224]
(SPGF21) BRDT [HSA:676] [KO:K11724]
(SPGF22) MEIOB [HSA:254528] [KO:K22420]
(SPGF23) TEX14 [HSA:56155] [KO:K17540]
(SPGF24) CFAP69 [HSA:79846] [KO:K24227]
(SPGF25) TEX15 [HSA:56154] [KO:K25680]
(SPGF26) TSGA10 [HSA:80705] [KO:K25632]
(SPGF27) AK7 [HSA:122481] [KO:K00939]
(SPGF28) FANCM [HSA:57697] [KO:K10896]
(SPGF29) SPINK2 [HSA:6691] [KO:K23418]
(SPGF30) TDRD9 [HSA:122402] [KO:K18408]
(SPGF31) PMFBP1 [HSA:83449] [KO:K23223]
(SPGF32) SOHLH1 [HSA:402381] [KO:K22495]
(SPGF33) CFAP251 [HSA:144406] [KO:K24228]
(SPGF34) FSIP2 [HSA:401024] [KO:K26675]
(SPGF35) QRICH2 [HSA:84074] [KO:K24298]
(SPGF36) PPP2R3C [HSA:55012] [KO:K11583]
(SPGF37) TTC21A [HSA:199223] [KO:K24178]
(SPGF38) ARMC2 [HSA:84071] [KO:K24123]
(SPGF39) DNAH17 [HSA:8632] [KO:K10408]
(SPGF40) CFAP65 [HSA:255101] [KO:K24226]
(SPGF41) CFAP70 [HSA:118491] [KO:K24932]
(SPGF42) TTC29 [HSA:83894] [KO:K24937]
(SPGF43) SPEF2 [HSA:79925] [KO:K25615]
(SPGF44) CEP112 [HSA:201134] [KO:K16767]
(SPGF45) DNAH2 [HSA:146754] [KO:K10408]
(SPGF46) DNAH8 [HSA:1769] [KO:K10408]
(SPGF47) DZIP1 [HSA:22873] [KO:K16470]
(SPGF48) M1AP [HSA:130951] [KO:K26106]
(SPGF49) CFAP58 [HSA:159686] [KO:K25554]
(SPGF50) XRCC2 [HSA:7516] [KO:K10879]
(SPGF51) CFAP91 [HSA:89876] [KO:K25461]
(SPGF52) C14orf39 [HSA:317761] [KO:K25705]
(SPGF53) ACTL9 [HSA:284382] [KO:K27902]
(SPGF54) CATIP [HSA:375307] [KO:K25788]
(SPGF55) SPAG17 [HSA:200162] [KO:K25533]
(SPGF56) DNAH10 [HSA:196385] [KO:K10408]
(SPGF57) PNLDC1 [HSA:154197] [KO:K01148]
(SPGF58) IFT74 [HSA:80173] [KO:K19679]
(SPGF59) TERB2 [HSA:145645] [KO:K25750]
(SPGF60) TERB1 [HSA:283847] [KO:K25749]
(SPGF61) STAG3 [HSA:10734] [KO:K13055]
(SPGF62) RNF212 [HSA:285498] [KO:K25662]
(SPGF63) RPL10L [HSA:140801] [KO:K02866]
(SPGF64) FBXO43 [HSA:286151] [KO:K10318]
(SPGF65) DNHD1 [HSA:144132] [KO:K26555]
(SPGF66) ZPBP [HSA:11055] [KO:K25752]
(SPGF67) CCDC62 [HSA:84660] [KO:K26436]
(SPGF68) C2CD6 [HSA:151254] [KO:K25947]
(SPGF69) GGN [HSA:199720] [KO:K26807]
(SPGF70) PDHA2 [HSA:5161] [KO:K00161]
(SPGF71) ZSWIM7 [HSA:125150] [KO:K25770]
(SPGF72) WDR19 [HSA:57728] [KO:K19671]
(SPGF73) MOV10L1 [HSA:54456] [KO:K13983]
(SPGF74) MSH5 [HSA:4439] [KO:K08741]
(SPGF75) SHOC1 [HSA:158401] [KO:K28108]
(SPGF76) CCDC34 [HSA:91057] [KO:K16753]
(SPGF77) FKBP6 [HSA:8468] [KO:K09572]
(SPGF78) IQCN [HSA:80726] [KO:K26737]
(SPGF79) KCNU1 [HSA:157855] [KO:K05274]
(SPGF80) DRC1 [HSA:92749] [KO:K19754]
(SPGF81) TEKT3 [HSA:64518] [KO:K18630]
(SPGF82) AKAP3 [HSA:10566] [KO:K16520]
(SPGF83) DNALI1 [HSA:7802] [KO:K10410]
(SPGF84) CFAP61 [HSA:26074] [KO:K25460]
(SPGF85) SPACA1 [HSA:81833] [KO:K25513]
(SPGF86) ACTL7A [HSA:10881] [KO:K27901]
(SPGF87) ACR [HSA:49] [KO:K01317]
(SPGF88) KASH5 [HSA:147872] [KO:K22595]
(SPGF89) AK9 [HSA:221264] [KO:K18533]
(SPGF90) ARMC12 [HSA:221481] [KO:K24168]
(SPGF91) CCIN [HSA:881] [KO:K24809]
(SPGF92) LRRC23 [HSA:10233] [KO:K27856]
(SPGF93) STK33 [HSA:65975] [KO:K08813]
(SPGF94) CCDC146 [HSA:57639] [KO:K27712]
(SPGF95) CFAP57 [HSA:149465] [KO:K24729]
(SPGF96) SPATA22 [HSA:84690] [KO:K22421]
(SPGF97) NUP210L [HSA:91181] [KO:K14314]
(SPGF98) CFAP54 [HSA:144535] [KO:K25553]
(SPGF99) SEPT4 [HSA:5414] [KO:K16943]
(SPGF100) DNAH12 [HSA:201625] [KO:K10408]
(SPGFX2) TEX11 [HSA:56159] [KO:K24574]
(SPGFX3) CFAP47 [HSA:286464] [KO:K25552]
(SPGFX4) GCNA [HSA:93953] [KO:K26957]
(SPGFX5) SSX1 [HSA:6756] [KO:K15624]
(SPGFX6) USP26 [HSA:83844] [KO:K11850]
(SPGFX7) CT55 [HSA:54967] [KO:K25478]
(SPGFX8) CYLC1 [HSA:1538] [KO:K28057]
(SPGFX9) RBBP7 [HSA:5931] [KO:K11659]
H01283 マロニル-CoA脱炭酸酵素欠損症 先天性代謝異常症 MLYCD [HSA:23417] [KO:K01578]
2928 件中 1241 〜 1280 を表示 前へ 1 ... 27 28 29 30 31 32 33 34 35 36 37 ... 74 次へ
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