呼吸系统或胸部畸形
Respiratory or thoracic malformation
ORPHA:97957疾病组
相关基因 24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 |
|---|---|---|
| CEP120 | centrosomal protein 120 | ORPHA:474 |
| CSPP1 | centrosome and spindle pole associated protein 1 | ORPHA:397715 |
| DYNC2H1 | dynein cytoplasmic 2 heavy chain 1 | ORPHA:474 |
| DYNC2I1 | dynein 2 intermediate chain 1 | ORPHA:474 |
| DYNC2I2 | dynein 2 intermediate chain 2 | ORPHA:474 |
| DYNC2LI1 | dynein cytoplasmic 2 light intermediate chain 1 | ORPHA:474 |
| GLE1 | GLE1 RNA export mediator | ORPHA:1486 |
| IFT122 | intraflagellar transport 122 | ORPHA:1515 |
| IFT140 | intraflagellar transport 140 | ORPHA:474 |
| IFT172 | intraflagellar transport 172 | ORPHA:474 |
| IFT43 | intraflagellar transport 43 | ORPHA:1515 |
| IFT52 | intraflagellar transport 52 | ORPHA:1515 |
| IFT54 | intraflagellar transport 54 | ORPHA:93269 |
| IFT80 | intraflagellar transport 80 | ORPHA:474 |
| KIAA0586 | KIAA0586 | ORPHA:397715 |
| KIAA0753 | KIAA0753 | ORPHA:474 |
| NEK1 | NIMA related kinase 1 | ORPHA:93269 |
| NEK9 | NIMA related kinase 9 | ORPHA:464366 |
| STRA6 | signaling receptor and transporter of retinol STRA6 | ORPHA:2470 |
| TCTN3 | tectonic family member 3 | ORPHA:2753 |
| TTC21B | tetratricopeptide repeat domain 21B | ORPHA:474 |
| WDR19 | WD repeat domain 19 | ORPHA:1515 |
| WDR35 | WD repeat domain 35 | ORPHA:1515 |
| WNT7B | Wnt family member 7B | ORPHA:2470 |
外部标识与链接
发现这一页有错误？告诉我 · 邮件主题会自动带上本页的 ORPHA 编号
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）