先天性肢体畸形
Congenital limb malformation
ORPHA:68378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 |
|---|---|---|
| APC | APC regulator of Wnt signaling pathway | ORPHA:3258 |
| ARHGAP31 | Rho GTPase activating protein 31 | ORPHA:974 |
| ASCC1 | activating signal cointegrator 1 complex subunit 1 | ORPHA:486811 |
| BMPR1B | bone morphogenetic protein receptor type 1B | ORPHA:2639 |
| BRD4 | bromodomain containing 4 | ORPHA:199 |
| CCNQ | cyclin Q | ORPHA:140952 |
| CDH3 | cadherin 3 | ORPHA:1897 |
| 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 |
| CHSY1 | chondroitin sulfate synthase 1 | ORPHA:363417 |
| CHUK | component of inhibitor of nuclear factor kappa B kinase complex | ORPHA:465824 |
| COL25A1 | collagen type XXV alpha 1 chain | ORPHA:1143 |
| CREBBP | CREB binding lysine acetyltransferase | ORPHA:353277 |
| CTNNB1 | catenin beta 1 | ORPHA:952 |
| DACT1 | dishevelled binding antagonist of beta catenin 1 | ORPHA:857 |
| DHODH | dihydroorotate dehydrogenase (quinone) | ORPHA:246 |
| DLL4 | delta like canonical Notch ligand 4 | ORPHA:974 |
| DLX5 | distal-less homeobox 5 | ORPHA:71271 |
| DNM2 | dynamin 2 | ORPHA:363409 |
| DOCK6 | dedicator of cytokinesis 6 | ORPHA:974 |
| DSE | dermatan sulfate epimerase | ORPHA:2953 |
| ECEL1 | endothelin converting enzyme like 1 | ORPHA:329457 |
| EFTUD2 | elongation factor Tu GTP binding domain containing 2 | ORPHA:79113 |
| EOGT | EGF domain specific O-linked N-acetylglucosamine transferase | ORPHA:974 |
| EP300 | EP300 lysine acetyltransferase | ORPHA:353284 |
| ERBB3 | erb-b2 receptor tyrosine kinase 3 | ORPHA:137776 |
| ERGIC1 | endoplasmic reticulum-golgi intermediate compartment 1 | ORPHA:1143 |
| EVC | EvC ciliary complex subunit 1 | ORPHA:952 |
| EVC2 | EvC ciliary complex subunit 2 | ORPHA:952 |
| FBN2 | fibrillin 2 | ORPHA:115 |
| FGF9 | fibroblast growth factor 9 | ORPHA:3237 |
| FGFR2 | fibroblast growth factor receptor 2 | ORPHA:87 |
| FKBP10 | FKBP prolyl isomerase 10 | ORPHA:1149 |
| GDF5 | growth differentiation factor 5 | ORPHA:3250 |
| GDF6 | growth differentiation factor 6 | ORPHA:3237 |
| GLE1 | GLE1 RNA export mediator | ORPHA:53696 |
| GLI2 | GLI family zinc finger 2 | ORPHA:420584 |
| HDAC8 | histone deacetylase 8 | ORPHA:199 |
| HOXA11 | homeobox A11 | ORPHA:71289 |
| HOXA13 | homeobox A13 | ORPHA:2438 |
| IRF6 | interferon regulatory factor 6 | ORPHA:1300 |
| KIF14 | kinesin family member 14 | ORPHA:439897 |
| LMBR1 | limb development membrane protein 1 | ORPHA:2378 |
| LMNA | lamin A/C | ORPHA:168796 |
| LRP4 | LDL receptor related protein 4 | ORPHA:3258 |
| MAP3K20 | mitogen-activated protein kinase kinase kinase 20 | ORPHA:488232 |
| MAU2 | MAU2 sister chromatid cohesion factor | ORPHA:199 |
| MECOM | MDS1 and EVI1 complex locus | ORPHA:71289 |
| MEGF8 | multiple EGF like domains 8 | ORPHA:65759 |
| MGP | matrix Gla protein | ORPHA:85202 |
| MYBPC1 | myosin binding protein C1 | ORPHA:498693 |
| MYH3 | myosin heavy chain 3 | ORPHA:2990 |
| MYH8 | myosin heavy chain 8 | ORPHA:319340 |
| MYSM1 | Myb like, SWIRM and MPN domains 1 | ORPHA:508542 |
| NALCN | sodium leak channel, non-selective | ORPHA:2053 |
| NEB | nebulin | ORPHA:33108 |
| NEK9 | NIMA related kinase 9 | ORPHA:464366 |
| NIPBL | NIPBL cohesin loading factor | ORPHA:199 |
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）