蛋白N-糖基化紊乱
Disorder of protein N-glycosylation
ORPHA:309347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 |
|---|---|---|
| ALG1 | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | ORPHA:79327 |
| ALG11 | ALG11 alpha-1,2-mannosyltransferase | ORPHA:280071 |
| ALG12 | ALG12 alpha-1,6-mannosyltransferase | ORPHA:79324 |
| ALG13 | ALG13 UDP-N-acetylglucosaminyltransferase subunit | ORPHA:324422 |
| ALG2 | ALG2 alpha-1,3/1,6-mannosyltransferase | ORPHA:79326 |
| ALG3 | ALG3 alpha-1,3- mannosyltransferase | ORPHA:79321 |
| ALG6 | ALG6 alpha-1,3-glucosyltransferase | ORPHA:79320 |
| ALG8 | ALG8 alpha-1,3-glucosyltransferase | ORPHA:79325 |
| ALG9 | ALG9 alpha-1,2-mannosyltransferase | ORPHA:79328 |
| DDOST | dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | ORPHA:300536 |
| DPAGT1 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | ORPHA:86309 |
| MAN1B1 | mannosidase alpha class 1B member 1 | ORPHA:397941 |
| MGAT2 | alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | ORPHA:79329 |
| MOGS | mannosyl-oligosaccharide glucosidase | ORPHA:79330 |
| MPI | mannose phosphate isomerase | ORPHA:79319 |
| PGM1 | phosphoglucomutase 1 | ORPHA:319646 |
| PMM2 | phosphomannomutase 2 | ORPHA:79318 |
| RFT1 | RFT1 glycolipid translocator homolog | ORPHA:244310 |
| SLC35A3 | solute carrier family 35 member A3 | ORPHA:370943 |
| SLC39A8 | solute carrier family 39 member 8 | ORPHA:468699 |
| SSR4 | signal sequence receptor subunit 4 | ORPHA:370927 |
| STT3A | STT3 oligosaccharyltransferase complex catalytic subunit A | ORPHA:370921 |
| STT3B | STT3 oligosaccharyltransferase complex catalytic subunit B | ORPHA:370924 |
| TMEM165 | transmembrane protein 165 | ORPHA:314667 |
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)