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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
ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferaseORPHA:79327
ALG11ALG11 alpha-1,2-mannosyltransferaseORPHA:280071
ALG12ALG12 alpha-1,6-mannosyltransferaseORPHA:79324
ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunitORPHA:324422
ALG2ALG2 alpha-1,3/1,6-mannosyltransferaseORPHA:79326
ALG3ALG3 alpha-1,3- mannosyltransferaseORPHA:79321
ALG6ALG6 alpha-1,3-glucosyltransferaseORPHA:79320
ALG8ALG8 alpha-1,3-glucosyltransferaseORPHA:79325
ALG9ALG9 alpha-1,2-mannosyltransferaseORPHA:79328
DDOSTdolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunitORPHA:300536
DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1ORPHA:86309
MAN1B1mannosidase alpha class 1B member 1ORPHA:397941
MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferaseORPHA:79329
MOGSmannosyl-oligosaccharide glucosidaseORPHA:79330
MPImannose phosphate isomeraseORPHA:79319
PGM1phosphoglucomutase 1ORPHA:319646
PMM2phosphomannomutase 2ORPHA:79318
RFT1RFT1 glycolipid translocator homologORPHA:244310
SLC35A3solute carrier family 35 member A3ORPHA:370943
SLC39A8solute carrier family 39 member 8ORPHA:468699
SSR4signal sequence receptor subunit 4ORPHA:370927
STT3ASTT3 oligosaccharyltransferase complex catalytic subunit AORPHA:370921
STT3BSTT3 oligosaccharyltransferase complex catalytic subunit BORPHA:370924
TMEM165transmembrane protein 165ORPHA: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)