神经肌肉疾病
Neuromuscular disease
ORPHA:68381疾病组
相关基因 60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 |
|---|---|---|
| ABCD1 | ATP binding cassette subfamily D member 1 | ORPHA:139399 |
| ABHD12 | abhydrolase domain containing 12, lysophospholipase | ORPHA:171848 |
| ANG | angiogenin | ORPHA:803 |
| ANXA11 | annexin A11 | ORPHA:803 |
| AP5Z1 | adaptor related protein complex 5 subunit zeta 1 | ORPHA:306511 |
| ASCC1 | activating signal cointegrator 1 complex subunit 1 | ORPHA:486811 |
| BTD | biotinidase | ORPHA:79241 |
| C9ORF72 | C9orf72-SMCR8 complex subunit | ORPHA:803 |
| CCNF | cyclin F | ORPHA:803 |
| CCT5 | chaperonin containing TCP1 subunit 5 | ORPHA:139578 |
| CD59 | CD59 molecule (CD59 blood group) | ORPHA:169464 |
| CFAP410 | cilia and flagella associated protein 410 | ORPHA:803 |
| CHCHD10 | coiled-coil-helix-coiled-coil-helix domain containing 10 | ORPHA:803 |
| CHMP2B | charged multivesicular body protein 2B | ORPHA:803 |
| CLCN1 | chloride voltage-gated channel 1 | ORPHA:614 |
| COA8 | cytochrome c oxidase assembly factor 8 | ORPHA:436271 |
| CYP27A1 | cytochrome P450 family 27 subfamily A member 1 | ORPHA:909 |
| CYP2U1 | cytochrome P450 family 2 subfamily U member 1 | ORPHA:320411 |
| CYP7B1 | cytochrome P450 family 7 subfamily B member 1 | ORPHA:100986 |
| DAO | D-amino acid oxidase | ORPHA:803 |
| DES | desmin | ORPHA:98909 |
| EMILIN1 | elastin microfibril interfacer 1 | ORPHA:485418 |
| ERBB4 | erb-b2 receptor tyrosine kinase 4 | ORPHA:803 |
| FA2H | fatty acid 2-hydroxylase | ORPHA:171629 |
| FARS2 | phenylalanyl-tRNA synthetase 2, mitochondrial | ORPHA:466722 |
| FDXR | ferredoxin reductase | ORPHA:543470 |
| FH | fumarate hydratase | ORPHA:24 |
| FIG4 | FIG4 phosphoinositide 5-phosphatase | ORPHA:803 |
| FUS | FUS RNA binding protein | ORPHA:803 |
| GBE1 | 1,4-alpha-glucan branching enzyme 1 | ORPHA:206583 |
| GJB3 | gap junction protein beta 3 | ORPHA:139512 |
| GLE1 | GLE1 RNA export mediator | ORPHA:803 |
| GSN | gelsolin | ORPHA:85448 |
| HADHA | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | ORPHA:5 |
| HK1 | hexokinase 1 | ORPHA:99953 |
| HNRNPA1 | heterogeneous nuclear ribonucleoprotein A1 | ORPHA:803 |
| HPDL | 4-hydroxyphenylpyruvate dioxygenase like | ORPHA:631076 |
| HSPD1 | heat shock protein family D (Hsp60) member 1 | ORPHA:100994 |
| IARS2 | isoleucyl-tRNA synthetase 2, mitochondrial | ORPHA:506 |
| KCNJ2 | potassium inwardly rectifying channel subfamily J member 2 | ORPHA:37553 |
| KCNJ5 | potassium inwardly rectifying channel subfamily J member 5 | ORPHA:37553 |
| KIF1A | kinesin family member 1A | ORPHA:101010 |
| KIF5A | kinesin family member 5A | ORPHA:100991 |
| KY | kyphoscoliosis peptidase | ORPHA:496689 |
| LIG3 | DNA ligase 3 | ORPHA:298 |
| LRP12 | LDL receptor related protein 12 | ORPHA:803 |
| LYST | lysosomal trafficking regulator | ORPHA:167 |
| MANBA | mannosidase beta | ORPHA:118 |
| MATR3 | matrin 3 | ORPHA:803 |
| MFN2 | mitofusin 2 | ORPHA:64751 |
| MMACHC | metabolism of cobalamin associated C | ORPHA:79282 |
| MT-ATP6 | mitochondrially encoded ATP synthase membrane subunit 6 | ORPHA:397750 |
| MT-ATP8 | mitochondrially encoded ATP synthase membrane subunit 8 | ORPHA:397750 |
| MTHFR | methylenetetrahydrofolate reductase | ORPHA:395 |
| MTTP | microsomal triglyceride transfer protein | ORPHA:14 |
| NIPA1 | NIPA magnesium transporter 1 | ORPHA:100988 |
| OAT | ornithine aminotransferase | ORPHA:414 |
| OGDH | oxoglutarate dehydrogenase | ORPHA:31 |
| OPTN | optineurin | ORPHA:803 |
| PCYT2 | phosphate cytidylyltransferase 2, ethanolamine | ORPHA:631073 |
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）