关节弯曲综合征
Arthrogryposis syndrome
ORPHA:109007疾病组
相关基因 37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 |
|---|---|---|
| ASCC1 | activating signal cointegrator 1 complex subunit 1 | ORPHA:486811 |
| CHRNA1 | cholinergic receptor nicotinic alpha 1 subunit | ORPHA:33108 |
| CHRND | cholinergic receptor nicotinic delta subunit | ORPHA:33108 |
| CHRNG | cholinergic receptor nicotinic gamma subunit | ORPHA:33108 |
| CHST14 | carbohydrate sulfotransferase 14 | ORPHA:2953 |
| COL25A1 | collagen type XXV alpha 1 chain | ORPHA:1143 |
| DNM2 | dynamin 2 | ORPHA:363409 |
| DSE | dermatan sulfate epimerase | ORPHA:2953 |
| ECEL1 | endothelin converting enzyme like 1 | ORPHA:329457 |
| ERBB3 | erb-b2 receptor tyrosine kinase 3 | ORPHA:137776 |
| ERGIC1 | endoplasmic reticulum-golgi intermediate compartment 1 | ORPHA:1143 |
| FBN2 | fibrillin 2 | ORPHA:115 |
| FKBP10 | FKBP prolyl isomerase 10 | ORPHA:1149 |
| GLE1 | GLE1 RNA export mediator | ORPHA:53696 |
| IRF6 | interferon regulatory factor 6 | ORPHA:1300 |
| KIF14 | kinesin family member 14 | ORPHA:439897 |
| MYBPC1 | myosin binding protein C1 | ORPHA:498693 |
| MYH3 | myosin heavy chain 3 | ORPHA:2990 |
| MYH8 | myosin heavy chain 8 | ORPHA:3377 |
| NALCN | sodium leak channel, non-selective | ORPHA:2053 |
| NEB | nebulin | ORPHA:33108 |
| NEK9 | NIMA related kinase 9 | ORPHA:464366 |
| PIEZO2 | piezo type mechanosensitive ion channel component 2 | ORPHA:2461 |
| PIP5K1C | phosphatidylinositol-4-phosphate 5-kinase type 1 gamma | ORPHA:137783 |
| RYR1 | ryanodine receptor 1 | ORPHA:33108 |
| SCARF2 | scavenger receptor class F member 2 | ORPHA:2460 |
| SCYL2 | SCY1 like pseudokinase 2 | ORPHA:1143 |
| SLC35A3 | solute carrier family 35 member A3 | ORPHA:370943 |
| SYNE1 | spectrin repeat containing nuclear envelope protein 1 | ORPHA:319332 |
| TNNI2 | troponin I2, fast skeletal type | ORPHA:1147 |
| TNNT3 | troponin T3, fast skeletal type | ORPHA:1147 |
| TPM2 | tropomyosin 2 | ORPHA:1147 |
| TRIP4 | thyroid hormone receptor interactor 4 | ORPHA:486811 |
| UBA1 | ubiquitin like modifier activating enzyme 1 | ORPHA:1145 |
| VIPAS39 | VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | ORPHA:2697 |
| VPS33B | VPS33B late endosome and lysosome associated | ORPHA:2697 |
| ZC4H2 | zinc finger C4H2-type containing | ORPHA:3454 |
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）