神经肌肉疾病中的定性或定量蛋白质缺陷
Qualitative or quantitative protein defects in neuromuscular diseases
ORPHA:207049疾病组
相关基因 34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 |
|---|---|---|
| ACTA1 | actin alpha 1, skeletal muscle | ORPHA:171430 |
| ANO5 | anoctamin 5 | ORPHA:206599 |
| ATP2A1 | ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 | ORPHA:53347 |
| CASQ1 | calsequestrin 1 | ORPHA:88635 |
| CAV3 | caveolin 3 | ORPHA:206599 |
| CFL2 | cofilin 2 | ORPHA:171436 |
| COL6A2 | collagen type VI alpha 2 chain | ORPHA:289380 |
| DAG1 | dystroglycan 1 | ORPHA:206599 |
| DES | desmin | ORPHA:85146 |
| DYSF | dysferlin | ORPHA:268 |
| FLNC | filamin C | ORPHA:171445 |
| HSPG2 | heparan sulfate proteoglycan 2 | ORPHA:1865 |
| KBTBD13 | kelch repeat and BTB domain containing 13 | ORPHA:171439 |
| KLHL40 | kelch like family member 40 | ORPHA:171430 |
| KLHL41 | kelch like family member 41 | ORPHA:171430 |
| LDB3 | LIM domain binding 3 | ORPHA:98912 |
| LIFR | LIF receptor subunit alpha | ORPHA:3206 |
| LMOD3 | leiomodin 3 | ORPHA:171430 |
| MYH7 | myosin heavy chain 7 | ORPHA:59135 |
| MYPN | myopalladin | ORPHA:171439 |
| NEB | nebulin | ORPHA:171430 |
| PLEC | plectin | ORPHA:257 |
| POMK | protein O-mannose kinase | ORPHA:445110 |
| RYR1 | ryanodine receptor 1 | ORPHA:98905 |
| SELENON | selenoprotein N | ORPHA:97244 |
| SGCA | sarcoglycan alpha | ORPHA:62 |
| SGCB | sarcoglycan beta | ORPHA:119 |
| SGCD | sarcoglycan delta | ORPHA:219 |
| SGCG | sarcoglycan gamma | ORPHA:353 |
| TCAP | titin-cap | ORPHA:34514 |
| TPM2 | tropomyosin 2 | ORPHA:171436 |
| TPM3 | tropomyosin 3 | ORPHA:171433 |
| TRIM32 | tripartite motif containing 32 | ORPHA:1878 |
| TTN | titin | ORPHA:324604 |
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）