RASopathy
ORPHA:536391疾病组暂无中文名
相关基因 21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 |
|---|---|---|
| BRAF | B-Raf proto-oncogene, serine/threonine kinase | ORPHA:500 |
| CBL | Cbl proto-oncogene | ORPHA:363972 |
| HRAS | HRas proto-oncogene, GTPase | ORPHA:3071 |
| KRAS | KRAS proto-oncogene, GTPase | ORPHA:1340 |
| LZTR1 | leucine zipper like post translational regulator 1 | ORPHA:648 |
| MAP2K1 | mitogen-activated protein kinase kinase 1 | ORPHA:1340 |
| MAP2K2 | mitogen-activated protein kinase kinase 2 | ORPHA:638 |
| MRAS | muscle RAS oncogene homolog | ORPHA:648 |
| NF1 | neurofibromin 1 | ORPHA:638 |
| NRAS | NRAS proto-oncogene, GTPase | ORPHA:648 |
| PPP1CB | protein phosphatase 1 catalytic subunit beta | ORPHA:2701 |
| PTPN11 | protein tyrosine phosphatase non-receptor type 11 | ORPHA:500 |
| RAF1 | Raf-1 proto-oncogene, serine/threonine kinase | ORPHA:500 |
| RASA2 | RAS p21 protein activator 2 | ORPHA:648 |
| RIT1 | Ras like without CAAX 1 | ORPHA:648 |
| RRAS2 | RAS related 2 | ORPHA:648 |
| SHOC2 | SHOC2 leucine rich repeat scaffold protein | ORPHA:2701 |
| SOS1 | SOS Ras/Rac guanine nucleotide exchange factor 1 | ORPHA:648 |
| SOS2 | SOS Ras/Rho guanine nucleotide exchange factor 2 | ORPHA:648 |
| SPRED1 | sprouty related EVH1 domain containing 1 | ORPHA:137605 |
| SPRED2 | sprouty related EVH1 domain containing 2 | ORPHA:648 |
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；本条目在该版本中无中文名
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）