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 |
| ABCD3 | ATP binding cassette subfamily D member 3 | ORPHA:98897 |
| ABHD12 | abhydrolase domain containing 12, lysophospholipase | ORPHA:171848 |
| ACTA1 | actin alpha 1, skeletal muscle | ORPHA:447977 |
| ADSS1 | adenylosuccinate synthase 1 | ORPHA:482601 |
| ANG | angiogenin | ORPHA:803 |
| ANO5 | anoctamin 5 | ORPHA:206549 |
| 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 |
| B3GALNT2 | beta-1,3-N-acetylgalactosaminyltransferase 2 | ORPHA:899 |
| B4GAT1 | beta-1,4-glucuronyltransferase 1 | ORPHA:899 |
| BTD | biotinidase | ORPHA:79241 |
| C9ORF72 | C9orf72-SMCR8 complex subunit | ORPHA:803 |
| CAPN3 | calpain 3 | ORPHA:267 |
| 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 |
| CHKB | choline kinase beta | ORPHA:280671 |
| CHMP2B | charged multivesicular body protein 2B | ORPHA:803 |
| CLCN1 | chloride voltage-gated channel 1 | ORPHA:614 |
| CNBP | CCHC-type zinc finger nucleic acid binding protein | ORPHA:606 |
| COA8 | cytochrome c oxidase assembly factor 8 | ORPHA:436271 |
| COL12A1 | collagen type XII alpha 1 chain | ORPHA:75840 |
| COL25A1 | collagen type XXV alpha 1 chain | ORPHA:45358 |
| COL6A1 | collagen type VI alpha 1 chain | ORPHA:75840 |
| COL6A2 | collagen type VI alpha 2 chain | ORPHA:75840 |
| COL6A3 | collagen type VI alpha 3 chain | ORPHA:75840 |
| CRPPA | CDP-L-ribitol pyrophosphorylase A | ORPHA:899 |
| 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 |
| DAG1 | dystroglycan 1 | ORPHA:899 |
| DAO | D-amino acid oxidase | ORPHA:803 |
| DES | desmin | ORPHA:98909 |
| DMD | dystrophin | ORPHA:206546 |
| DMPK | DM1 protein kinase | ORPHA:589824 |
| DNAJB6 | DnaJ heat shock protein family (Hsp40) member B6 | ORPHA:34516 |
| DPM2 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | ORPHA:329178 |
| DPM3 | dolichyl-phosphate mannosyltransferase subunit 3, regulatory | ORPHA:263494 |
| DYSF | dysferlin | ORPHA:199329 |
| EMD | emerin | ORPHA:98863 |
| 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 |
| FHL1 | four and a half LIM domains 1 | ORPHA:98863 |
| FIG4 | FIG4 phosphoinositide 5-phosphatase | ORPHA:803 |
| FKRP | fukutin related protein | ORPHA:899 |
| FKTN | fukutin | ORPHA:899 |
| FUS | FUS RNA binding protein | ORPHA:803 |
| GBE1 | 1,4-alpha-glucan branching enzyme 1 | ORPHA:206583 |
| GIPC1 | GIPC PDZ domain containing family member 1 | ORPHA:98897 |
| GJB3 | gap junction protein beta 3 | ORPHA:139512 |
| GLE1 | GLE1 RNA export mediator | ORPHA:803 |
| GMPPB | GDP-mannose pyrophosphorylase B | ORPHA:370968 |
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）