代谢物吸收-转运障碍
Disorder of metabolite absorption and transport
ORPHA:309824疾病组
相关基因 27来自下位疾病
Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来,「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。
| 基因 | 名称 | 来源条目 |
|---|---|---|
| AMN | amnion associated transmembrane protein | ORPHA:35858 |
| AP1B1 | adaptor related protein complex 1 subunit beta 1 | ORPHA:171851 |
| AP1S1 | adaptor related protein complex 1 subunit sigma 1 | ORPHA:171851 |
| ATP7A | ATPase copper transporting alpha | ORPHA:198 |
| ATP7B | ATPase copper transporting beta | ORPHA:905 |
| BCO1 | beta-carotene oxygenase 1 | ORPHA:199285 |
| CBLIF | cobalamin binding intrinsic factor | ORPHA:332 |
| CD320 | CD320 molecule | ORPHA:280183 |
| CP | ceruloplasmin | ORPHA:48818 |
| CUBN | cubilin | ORPHA:35858 |
| DHFR | dihydrofolate reductase | ORPHA:319651 |
| FOLR1 | folate receptor 1 | ORPHA:217382 |
| FTCD | formimidoyltransferase cyclodeaminase | ORPHA:51208 |
| FTL | ferritin light chain | ORPHA:157846 |
| MTHFR | methylenetetrahydrofolate reductase | ORPHA:395 |
| MTHFS | methenyltetrahydrofolate synthetase | ORPHA:597874 |
| SCO2 | synthesis of cytochrome C oxidase 2 | ORPHA:521411 |
| SLC11A2 | solute carrier family 11 member 2 | ORPHA:83642 |
| SLC19A1 | solute carrier family 19 member 1 | ORPHA:661412 |
| SLC30A10 | solute carrier family 30 member 10 | ORPHA:309854 |
| SLC39A14 | solute carrier family 39 member 14 | ORPHA:521406 |
| SLC39A4 | solute carrier family 39 member 4 | ORPHA:37 |
| SLC46A1 | solute carrier family 46 member 1 | ORPHA:90045 |
| SLC52A1 | solute carrier family 52 member 1 | ORPHA:411712 |
| TCN1 | transcobalamin 1 | ORPHA:2967 |
| TCN2 | transcobalamin 2 | ORPHA:859 |
| TF | transferrin | ORPHA:1195 |
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学:Orphanet(CC BY 4.0)
- 中文病名:Orphanet 中文包,冻结于 2020-06-01
- 表型中文标签:HPO 简体中文翻译(CHPO 上游成果)