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 |
|---|---|---|---|---|
| H02686 | 顔異形と歯の異常を伴う発達遅滞 | 先天奇形 | (DEFDA/DHDBV) SATB1 [HSA:6304] [KO:K23225] | |
| H02696 | 早期発症型てんかん | 神経系疾患 |
(EPEO1) PLPBP [HSA:11212] [KO:K06997] (EPEO2) SETD1A [HSA:9739] [KO:K11422] (EPEO3) ATP6V0C [HSA:527] [KO:K02155] (EPEO4) ALDH7A1 [HSA:501] [KO:K14085] |
|
| H02698 | Trichohepatoneurodevelopmental 症候群 | 先天奇形 | CCDC47 [HSA:57003] [KO:K24962] | |
| H02703 | VISS 症候群 | 先天奇形 | IPO8 [HSA:10526] [KO:K18755] | |
| H02709 | アミノアシルtRNA合成酵素の欠損を伴う神経発達障害 | 先天奇形 |
(NEDMAS) SARS1 [HSA:6301] [KO:K01875] (NDMSCA) VARS1 [HSA:7407] [KO:K01873] (NEDMILEG) NARS1 [HSA:4677] [KO:K01893] (NEMMLAS) WARS2 [HSA:10352] [KO:K01867] (NEDMSBA) WARS1 [HSA:7453] [KO:K01867] |
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| H02710 | Yuksel-Vogel-Bauer 症候群 | 先天奇形 | DLG5 [HSA:9231] [KO:K24050] | |
| H02713 | 毛髪の異常と先端角化症を伴う炎症性多形皮膚萎縮症 | 先天奇形 | LTV1 [HSA:84946] [KO:K14798] | |
| H02714 | Tessadori-Bicknell-van Haaften 神経発達症候群 | 先天奇形 |
(TEBIVANED1) H4C3 [HSA:8364] [KO:K11254] (TEBIVANED2) H4C11 [HSA:8363] [KO:K11254] (TEBIVANED3) H4C5 [HSA:8367] [KO:K11254] (TEBIVANED4) H4C9 [HSA:8294] [KO:K11254] |
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| H02715 | ユビキチン・プロテアソーム系の欠損を伴う神経発達障害 | 先天奇形 |
(NEDSG) UFC1 [HSA:51506] [KO:K12165] (NDHSAL) HECW2 [HSA:57520] [KO:K12168] (NEDAUS) CUL3 [HSA:8452] [KO:K03869] (NEDAMSS) IRF2BPL [HSA:64207] [KO:K22383] (NEDHMS) UBE4A [HSA:9354] [KO:K10596] (NEDSMB) UBE3C [HSA:9690] [KO:K10589] (NEDSSCC) HECTD4 [HSA:283450] [KO:K17849] (NEDLBF) UBAP2L [HSA:9898] [KO:K26545] (NSDVS1/2) SPOP [HSA:8405] [KO:K10523] (NEDJED) FBXW11 [HSA:23291] [KO:K03362] (BURHAS) SIAH1 [HSA:6477] [KO:K04506] (NEDFIH) NAE1 [HSA:8883] [KO:K04532] (MCAND) OTUD5 [HSA:55593] [KO:K12655] (NEDHS) OTUD7A [HSA:161725] [KO:K11860] (NEDMHAL) PSMB1 [HSA:5689] [KO:K02732] (STISS) PSMD12 [HSA:5718] [KO:K03035] (BKAH) PSMC1 [HSA:5700] [KO:K03062] (CAFDADD) TRAF7 [HSA:84231] [KO:K10646] (NEDBES) FEM1B [HSA:10116] [KO:K10349] (TYMAS) FBXO22 [HSA:26263] [KO:K10302] |
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| H02747 | Oculogastrointestinal neurodevelopmental 症候群 | 先天奇形 | CAPN15 [HSA:6650] [KO:K08582] | |
| H02748 | Hepatorenocardiac degenerative fibrosis | 先天奇形 | TULP3 [HSA:7289] [KO:K19600] | |
| H02760 | BDV 症候群 | 先天性代謝異常症 | CPE [HSA:1363] [KO:K01294] | |
| H02783 | Myopathy with rimmed ubiquitin-positive autophagic vacuolation | 筋骨格疾患 | PLIN4 [HSA:729359] [KO:K20254] | |
| H02786 | ENDOVE 症候群 | 先天奇形 | EN1 [HSA:2019] [KO:K09319] | |
| H02802 | 小児発症線条体黒質変性症 | 神経系疾患 | VAC14 [HSA:55697] [KO:K15305] | |
| H02820 | Progressive encephalopathy with amyotrophy and optic atrophy | 神経系疾患 | TBCE [HSA:6905] [KO:K21768] | |
| H02821 | Sandestig-Stefanova 症候群 | 先天奇形 | NUP188 [HSA:23511] [KO:K14311] | |
| H02824 | Abnormal hair, joint laxity, and developmental delay | 先天奇形 | HEPHL1 [HSA:341208] [KO:K14735] | |
| H02834 | Kariminejad-Reversade 神経発達症候群 | 先天奇形 | RBSN [HSA:64145] [KO:K12481] | |
| H02843 | TRiCの機能障害による脳奇形とてんかん発作 | 先天奇形 |
(IDDPMGS) TCP1 [HSA:6950] [KO:K09493] (NEDSVH) CCT3 [HSA:7203] [KO:K09495] |
|
| H02935 | 魚鱗癬・痙性四肢麻痺および知的発達障害 | 先天奇形 | ELOVL4 [HSA:6785] [KO:K10249] | |
| H02971 | VEXAS 症候群 | 免疫系疾患 | UBA1 [HSA:7317] [KO:K03178] |
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