蛋白O-糖基化紊乱
Disorder of protein O-glycosylation
ORPHA:309447疾病组
相关基因 19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 |
|---|---|---|
| B3GLCT | beta 3-glucosyltransferase | ORPHA:709 |
| CRPPA | CDP-L-ribitol pyrophosphorylase A | ORPHA:352479 |
| DLL3 | delta like canonical Notch ligand 3 | ORPHA:2311 |
| FKRP | fukutin related protein | ORPHA:34515 |
| FKTN | fukutin | ORPHA:206554 |
| GMPPB | GDP-mannose pyrophosphorylase B | ORPHA:363623 |
| HES7 | hes family bHLH transcription factor 7 | ORPHA:2311 |
| KRT5 | keratin 5 | ORPHA:79145 |
| LFNG | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | ORPHA:2311 |
| MESP2 | mesoderm posterior bHLH transcription factor 2 | ORPHA:2311 |
| POFUT1 | protein O-fucosyltransferase 1 | ORPHA:79145 |
| POGLUT1 | protein O-glucosyltransferase 1 | ORPHA:480682 |
| POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | ORPHA:206564 |
| POMK | protein O-mannose kinase | ORPHA:445110 |
| POMT1 | protein O-mannosyltransferase 1 | ORPHA:86812 |
| POMT2 | protein O-mannosyltransferase 2 | ORPHA:206559 |
| PSENEN | presenilin enhancer, gamma-secretase subunit | ORPHA:79145 |
| RIPPLY2 | ripply transcriptional repressor 2 | ORPHA:2311 |
| TBX6 | T-box transcription factor 6 | ORPHA:2311 |
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）