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 |
|---|---|---|---|---|
| H00963 | 先天遺伝性角膜内皮変性症 | 神経系疾患 | SLC4A11 [HSA:83959] [KO:K13862] | |
| H00964 | Poor metabolism of thiopurines | 先天性代謝異常症 |
(THPM1) TPMT [HSA:7172] [KO:K00569] (THPM2) NUDT15 [HSA:55270] [KO:K03574] |
|
| H00965 | RAPADILINO 症候群 | 先天奇形 | RECQL4 [HSA:9401] [KO:K10730] | |
| H00966 | AICA-ribosiduria | 先天性代謝異常症 | ATIC [HSA:471] [KO:K00602] | |
| H00967 | アディポネクチン欠損 | 先天性代謝異常症 | ADIPOQ [HSA:9370] [KO:K07296] | |
| H00968 | Raine 症候群 | 先天奇形 | FAM20C [HSA:56975] [KO:K21958] | |
| H00969 | Skeletal defects, genital hypoplasia, and mental retardation | 先天奇形 | ZBTB16 [HSA:7704] [KO:K10055] | |
| H00970 | 若年性原発性側索硬化症 | 神経変性疾患 | ALS2 [HSA:57679] [KO:K04575] | |
| H00971 |
全色盲 杆体１色覚 |
神経系疾患 |
(ACHM2) CNGA3 [HSA:1261] [KO:K04950] (ACHM3) CNGB3 [HSA:54714] [KO:K04953] (ACHM4) GNAT2 [HSA:2780] [KO:K04631] (ACHM5) PDE6C [HSA:5146] [KO:K13757] (ACHM6) PDE6H [HSA:5149] [KO:K13760] (ACHM7) ATF6 [HSA:22926] [KO:K09054] |
|
| H00972 | 内分泌系-脳-骨異形成症候群 | 先天奇形 | ICK [HSA:22858] [KO:K08828] | |
| H00973 | 遅視症 | 神経系疾患 |
(PERRS1) RGS9 [HSA:8787] [KO:K13765] (PERRS2) RGS9BP [HSA:388531] [KO:K25405] |
|
| H00974 | 青錐体全色覚異常 | 神経系疾患 |
OPN1LW [HSA:5956] [KO:K04251] OPN1MW [HSA:2652] [KO:K04251] |
|
| H00975 |
ロタウイルス腸炎 ロタウイルス胃腸炎 |
ウイルス感染症 | ||
| H00976 | 色覚異常 | 神経系疾患 |
(CBP) OPN1LW [HSA:5956] [KO:K04251] (CBD) OPN1MW [HSA:2652] [KO:K04251] (CBT) OPN1SW [HSA:611] [KO:K04252] |
|
| H00977 | 毛髪鼻指節骨症候群 | 先天奇形 |
(TRPS1_2_3) TRPS1 [HSA:7227] [KO:K22040] (TRPS2) EXT1 [HSA:2131] [KO:K02366] |
|
| H00978 | 血小板減少症 | 血液疾患 |
(THC1) WAS [HSA:7454] [KO:K05747] (THC2) ANKRD26 [HSA:22852] [KO:K25138] (THC3) FYB1 [HSA:2533] [KO:K17698] (THC4) CYCS [HSA:54205] [KO:K08738] (THC5) ETV6 [HSA:2120] [KO:K03211] (THC6) SRC [HSA:6714] [KO:K05704] (THC7) IKZF5 [HSA:64376] [KO:K09220] (THC8) ACTB [HSA:60] [KO:K05692] (THC9) THPO [HSA:7066] [KO:K06854] (THC10) PTPRJ [HSA:5795] [KO:K05698] (THC11) RAP1B [HSA:5908] [KO:K07836] (THC12) GNE [HSA:10020] [KO:K12409] (THC13) GALE [HSA:2582] [KO:K01784] (XLTT/XLTDA) GATA1 [HSA:2623] [KO:K09182] (THAMY) MPIG6B [HSA:80739] [KO:K25640] (FPDMM) RUNX1 [HSA:861] [KO:K08367] |
|
| H00979 |
尾退行症候群 前方仙骨部髄膜瘤 |
先天奇形 | VANGL1 [HSA:81839] [KO:K04510] | |
| H00980 | Nevo 症候群 | 先天奇形 | PLOD [HSA:5351] [KO:K00473] | |
| H00981 | ビタミン E 欠乏による運動失調症 | 先天性代謝異常症 | TTPA [HSA:7274] [KO:K24455] | |
| H00982 | 遺伝性鉄芽球性貧血 | 血液疾患 |
(SIDBA1) ALAS2 [HSA:212] [KO:K00643] (SIDBA2) SLC25A38 [HSA:54977] [KO:K15118] (SIDBA3) GLRX5 [HSA:51218] [KO:K07390] (SIDBA4) HSPA9 [HSA:3313] [KO:K04043] (SIDBA5) HSCB [HSA:150274] [KO:K04082] (ASAT) ABCB7 [HSA:22] [KO:K05662] |
|
| H00983 | 先天性アルファ2プラスミンインヒビター欠損症 | 血液疾患 | SERPINF2 [HSA:5345] [KO:K03983] | |
| H00984 | MHCクラスI欠損症 | 免疫系疾患 |
(MHC1D1) TAP1 [HSA:6890] [KO:K05653] (MHC1D2) TAP2 [HSA:6891] [KO:K05654] (MHC1D3) TAPBP [HSA:6892] [KO:K08058] (MHC1D4) B2M [HSA:567] [KO:K08055] |
|
| H00985 | MHCクラスII欠損症 | 免疫系疾患 |
(MHC2D1) CIITA [HSA:4261] [KO:K08060] (MHC2D2) RFXANK [HSA:8625] [KO:K08062] (MHC2D3/5) RFX5 [HSA:5993] [KO:K08061] (MHC2D4) RFXAP [HSA:5994] [KO:K08063] |
|
| H00986 | 多発性翼状片症候群 | 先天奇形 |
(LMPS, EVMPS) CHRNG [HSA:1146] [KO:K04818] (LMPS) CHRNA1 [HSA:1134] [KO:K04803] (LMPS) CHRND [HSA:1144] [KO:K04816] |
|
| H00987 | 胎児無動変形シークエンス | 先天奇形 |
(FADS1) MUSK [HSA:4593] [KO:K05129] (FADS2) RAPSN [HSA:5913] [KO:K24924] (FADS3) DOK7 [HSA:285489] [KO:K24038] (FADS4) NUP88 [HSA:4927] [KO:K14318] |
|
| H00988 |
エンテロキナーゼ欠損症 エンテロペプチダーゼ欠損症 |
先天性代謝異常症 | TMPRSS15 [HSA:5651] [KO:K01316] | |
| H00989 | Mohr-Tranebjaerg 症候群 | 神経系疾患 | TIMM8A [HSA:1678] [KO:K17780] | |
| H00990 |
アーミッシュ型小頭症 チアミン代謝異常症候群 3 |
先天奇形 | SLC25A19 [HSA:60386] [KO:K15108] | |
| H00991 | MOPD II | 先天奇形 | PCNT [HSA:5116] [KO:K16481] | |
| H00992 | Seckel 症候群 | 先天奇形 |
(SCKL1) ATR [HSA:545] [KO:K06640] (SCKL2) RBBP8 [HSA:5932] [KO:K20773] (SCKL4) CENPJ [HSA:55835] [KO:K11502] (SCKL5) CEP152 [HSA:22995] [KO:K16728] (SCKL6) CEP63 [HSA:80254] [KO:K16763] (SCKL7) NIN [HSA:51199] [KO:K16476] (SCKL8) DNA2 [HSA:1763] [KO:K10742] (SCKL9) TRAIP [HSA:10293] [KO:K11985] (SCKL10) NSMCE2 [HSA:286053] [KO:K22756] (SCKL11) CEP295 [HSA:85459] [KO:K26251] |
|
| H00993 | Taybi-Linder 症候群 | 先天奇形 | RNU4ATAC [HSA:100151683] [KO:K26388] | |
| H00994 | Familial skewed X-chromosome inactivation | 染色体異常 | ||
| H00995 | ビタミン K 欠乏による凝固因子欠乏 | 循環器系疾患 |
(VKCFD1) GGCX [HSA:2677] [KO:K10106] (VKCFD2) VKORC1 [HSA:79001] [KO:K05357] |
|
| H00996 | アーミッシュ小児てんかん症候群 | 先天性代謝異常症 | ST3GAL5 [HSA:8869] [KO:K03370] | |
| H00997 | CATSHL 症候群 | 先天奇形 | FGFR3 [HSA:2261] [KO:K05094] | |
| H00998 | 小児交互性片麻痺 | 神経系疾患 |
(AHC1) ATP1A2 [HSA:477] [KO:K01539] (AHC2) ATP1A3 [HSA:478] [KO:K01539] |
|
| H00999 | コエンザイムQ10欠損症 | 先天性代謝異常症 |
(COQ10D1) COQ2 [HSA:27235] [KO:K06125] (COQ10D2) PDSS1 [HSA:23590] [KO:K12504] (COQ10D3) PDSS2 [HSA:57107] [KO:K12505] (COQ10D4) COQ8A [HSA:56997] [KO:K08869] (COQ10D5) COQ9 [HSA:57017] [KO:K18587] (COQ10D6) COQ6 [HSA:51004] [KO:K06126] (COQ10D7) COQ4 [HSA:51117] [KO:K18586] (COQ10D8) COQ7 [HSA:10229] [KO:K28034] (COQ10D9) COQ5 [HSA:84274] [KO:K06127] |
|
| H01000 | 脳白質萎縮症を伴う網膜脈管障害 | 神経系疾患 | TREX1 [HSA:11277] [KO:K10790] | |
| H01001 | COACH 症候群 | 先天奇形 |
(COACH1) TMEM67 [HSA:91147] [KO:K19348] (COACH2) CC2D2A [HSA:57545] [KO:K19352] (COACH3) RPGRIP1L [HSA:23322] [KO:K16550] |
|
| H01002 | 乳児全身性動脈石灰化 (GACI) | 循環器系疾患 |
(GACI1) ENPP1 [HSA:5167] [KO:K01513] (GACI2) ABCC6 [HSA:368] [KO:K05669] |
| [ KEGG | KEGG DRUG | KEGG MEDICUS ] |