睫状体病
Ciliopathy
ORPHA:363250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 |
|---|---|---|
| ADAMTS9 | ADAM metallopeptidase with thrombospondin type 1 motif 9 | ORPHA:93592 |
| AHI1 | Abelson helper integration site 1 | ORPHA:475 |
| ALMS1 | ALMS1 centrosome and basal body associated protein | ORPHA:64 |
| ANKS6 | ankyrin repeat and sterile alpha motif domain containing 6 | ORPHA:93592 |
| ARL13B | ARF like GTPase 13B | ORPHA:475 |
| ARL3 | ARF like GTPase 3 | ORPHA:475 |
| ARL6 | ARF like GTPase 6 | ORPHA:110 |
| ARMC9 | armadillo repeat containing 9 | ORPHA:475 |
| B9D1 | B9 domain containing 1 | ORPHA:475 |
| B9D2 | B9 domain containing 2 | ORPHA:475 |
| BBIP1 | BBSome interacting protein 1 | ORPHA:110 |
| BBS1 | Bardet-Biedl syndrome 1 | ORPHA:110 |
| BBS10 | Bardet-Biedl syndrome 10 | ORPHA:110 |
| BBS12 | Bardet-Biedl syndrome 12 | ORPHA:110 |
| BBS2 | Bardet-Biedl syndrome 2 | ORPHA:110 |
| BBS4 | Bardet-Biedl syndrome 4 | ORPHA:110 |
| BBS5 | Bardet-Biedl syndrome 5 | ORPHA:110 |
| BBS7 | Bardet-Biedl syndrome 7 | ORPHA:110 |
| BBS9 | Bardet-Biedl syndrome 9 | ORPHA:110 |
| BRWD1 | bromodomain and WD repeat domain containing 1 | ORPHA:244 |
| CBY1 | chibby 1, beta catenin antagonist | ORPHA:475 |
| CC2D2A | coiled-coil and C2 domain containing 2A | ORPHA:564 |
| CCDC39 | coiled-coil domain 39 molecular ruler complex subunit | ORPHA:244 |
| CCDC40 | coiled-coil domain 40 molecular ruler complex subunit | ORPHA:244 |
| CCNO | cyclin O | ORPHA:244 |
| CENPF | centromere protein F | ORPHA:506307 |
| CEP104 | centrosomal protein 104 | ORPHA:475 |
| CEP120 | centrosomal protein 120 | ORPHA:474 |
| CEP164 | centrosomal protein 164 | ORPHA:3156 |
| CEP19 | centrosomal protein 19 | ORPHA:110 |
| CEP290 | centrosomal protein 290 | ORPHA:110 |
| CEP41 | centrosomal protein 41 | ORPHA:475 |
| CFAP221 | cilia and flagella associated protein 221 | ORPHA:244 |
| CFAP298 | cilia and flagella associated protein 298 | ORPHA:244 |
| CFAP300 | cilia and flagella associated protein 300 | ORPHA:244 |
| CFAP418 | cilia and flagella associated protein 418 | ORPHA:110 |
| CFAP74 | cilia and flagella associated protein 74 | ORPHA:244 |
| CLXN | calaxin | ORPHA:244 |
| CPLANE1 | ciliogenesis and planar polarity effector complex subunit 1 | ORPHA:475 |
| CSPP1 | centrosome and spindle pole associated protein 1 | ORPHA:475 |
| DAW1 | dynein assembly factor with WD repeats 1 | ORPHA:244 |
| DNAAF1 | dynein axonemal assembly factor 1 | ORPHA:244 |
| DNAAF11 | dynein axonemal assembly factor 11 | ORPHA:244 |
| DNAAF19 | dynein axonemal assembly factor 19 | ORPHA:244 |
| DNAAF2 | dynein axonemal assembly factor 2 | ORPHA:244 |
| DNAAF3 | dynein axonemal assembly factor 3 | ORPHA:244 |
| DNAAF4 | dynein axonemal assembly factor 4 | ORPHA:244 |
| DNAAF5 | dynein axonemal assembly factor 5 | ORPHA:244 |
| DNAAF6 | PIH1 domain containing 3 | ORPHA:244 |
| DNAH1 | dynein axonemal heavy chain 1 | ORPHA:244 |
| DNAH11 | dynein axonemal heavy chain 11 | ORPHA:244 |
| DNAH5 | dynein axonemal heavy chain 5 | ORPHA:244 |
| DNAH7 | dynein axonemal heavy chain 7 | ORPHA:244 |
| DNAH9 | dynein axonemal heavy chain 9 | ORPHA:244 |
| DNAI1 | dynein axonemal intermediate chain 1 | ORPHA:244 |
| DNAI2 | dynein axonemal intermediate chain 2 | ORPHA:244 |
| DNAJB13 | DnaJ heat shock protein family (Hsp40) member B13 | ORPHA:244 |
| DNAL1 | dynein axonemal light chain 1 | ORPHA:244 |
| DRC1 | dynein regulatory complex subunit 1 | ORPHA:244 |
| DRC2 | dynein regulatory complex subunit 2 | ORPHA:244 |
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）